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<span id="openzim-page-title" class="mw-page-title-main"><span class="mw-page-title-main">SCO2</span></span>
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</style><div role="note" class="hatnote navigation-not-searchable">For sCO<sub>2</sub>, the phase of carbon dioxide, see <a href="Supercritical_carbon_dioxide" title="Supercritical carbon dioxide">supercritical carbon dioxide</a>.</div>
<table class="infobox" style="width:26.4em"><tbody><tr><th colspan="4" style="text-align:center;font-size:125%;font-weight:bold">SCO2</th></tr><tr><td colspan="4" style="text-align:center"></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Available structures</th></tr><tr><th rowspan="2" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;width:43px"><a href="Protein_Data_Bank" title="Protein Data Bank">PDB</a></th><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit">Ortholog search: <span class=""><a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/pdbe/searchResults.html?display=both&term=Q8VCL2%20or%20O43819">PDBe</a> <a rel="nofollow" class="external text" href="https://www.rcsb.org/search?q=rcsb_polymer_entity_container_identifiers.reference_sequence_identifiers.database_name:UniProt%20AND%20rcsb_polymer_entity_container_identifiers.reference_sequence_identifiers.database_accession:Q8VCL2,O43819">RCSB</a> </span></td></tr><tr><td><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr style="text-align:center"><th colspan="2" style="background-color:light-dark(#ddd, #404244) !important;color:inherit">List of PDB id codes</th></tr><tr><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><p><span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2RLI">2RLI</a></span></p></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Identifiers</th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><span class=""><a href="Gene_nomenclature" title="Gene nomenclature">Aliases</a></span></th><td colspan="3" style="background:light-dark(#eee, #27292d) !important;color:inherit"><span class=""><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/10604">SCO2</a></span>, CEMCOX1, MYP6, SCO1L, SCO2 cytochrome c oxidase assembly protein, cytochrome c oxidase assembly protein, PD-ECGF, TP, Gliostatin, TYMP, ECGF1, TdRPase, SCO cytochrome c oxidase assembly protein 2, synthesis of cytochrome C oxidase 2, MC4DN2</td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">External IDs</th><td colspan="3" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class=""><a href="Mendelian_Inheritance_in_Man" class="mw-redirect" title="Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://omim.org/entry/604272">604272</a>; <a href="Mouse_Genome_Informatics" title="Mouse Genome Informatics">MGI</a>: <a rel="nofollow" class="external text" href="http://www.informatics.jax.org/marker/MGI:3818630">3818630</a>; <a href="HomoloGene" title="HomoloGene">HomoloGene</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=homologene&dopt=HomoloGene&list_uids=68444">68444</a>; <a href="GeneCards" title="GeneCards">GeneCards</a>: <a rel="nofollow" class="external text" href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCO2">SCO2</a>; <a href="Orthologous_MAtrix" title="Orthologous MAtrix">OMA</a>:<a rel="nofollow" class="external text" href="https://omabrowser.org/oma/vps/ENSG00000284194">SCO2 - orthologs</a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Gene location (<a href="Human_genome" title="Human genome">Human</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span typeof="mw:File"></span></td></tr><tr><th scope="row" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class=""><a href="Chromosome_22_(human)" class="mw-redirect" title="Chromosome 22 (human)">Chromosome 22 (human)</a><sup id="cite_ref-refGRCh38Ensembl_1-0" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"></span><div style="position: absolute; left: 287.03471477596px; top: 2px; padding: 0;"><span typeof="mw:File"></span></div><div style="position: absolute; left: 293px; top: 19px; padding: 0;"><span typeof="mw:File"></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">22q13.33</span></td><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Start</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">50,523,568 <a href="Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-1" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">End</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">50,526,461 <a href="Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-2" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Gene location (<a href="Laboratory_mouse" title="Laboratory mouse">Mouse</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span typeof="mw:File"></span></td></tr><tr><th scope="row" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">Chromosome 15 (mouse)<sup id="cite_ref-refGRCm38Ensembl_2-0" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"></span><div style="position: absolute; left: 246.93084264564px; top: 2px; padding: 0;"><span typeof="mw:File"></span></div><div style="position: absolute; left: 252.9px; top: 19px; padding: 0;"><span typeof="mw:File"></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">15|15 E3</span></td><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Start</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">89,255,840 <a href="Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-1" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">End</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="">89,258,049 <a href="Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-2" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="Gene_expression" title="Gene expression">RNA expression</a> pattern</th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a rel="nofollow" class="external text" href="https://www.bgee.org/">Bgee</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th><b><a href="Human_genome" title="Human genome">Human</a></b></th><th><b><a href="Laboratory_mouse" title="Laboratory mouse">Mouse</a> (ortholog)</b></th></tr><tr><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000284194">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">right uterine tube</li><br><li style="line-height: 137%;">granulocyte</li><br><li style="line-height: 137%;">mucosa of transverse colon</li><br><li style="line-height: 137%;">monocyte</li><br><li style="line-height: 137%;">gingival epithelium</li><br><li style="line-height: 137%;">gonad</li><br><li style="line-height: 137%;">palpebral conjunctiva</li><br><li style="line-height: 137%;">periodontal fiber</li><br><li style="line-height: 137%;">right lobe of liver</li><br><li style="line-height: 137%;">epithelium of bronchus</li></ul></div></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSMUSG00000091780">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">yolk sac</li><br><li style="line-height: 137%;">blastocyst</li><br><li style="line-height: 137%;">embryo</li><br><li style="line-height: 137%;">duodenum</li><br><li style="line-height: 137%;">colon</li><br><li style="line-height: 137%;">proximal tubule</li><br><li style="line-height: 137%;">right kidney</li><br><li style="line-height: 137%;">muscle of thigh</li><br><li style="line-height: 137%;">jejunum</li><br><li style="line-height: 137%;">morula</li></ul></div></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class=""><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000284194">More reference expression data</a></span></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a rel="nofollow" class="external text" href="http://biogps.org/">BioGPS</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit">n/a</td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="Gene_ontology" class="mw-redirect" title="Gene ontology">Gene ontology</a></th></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Molecular function</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="">
<ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005515">protein binding</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005507">copper ion binding</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0046872">metal ion binding</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0015035">protein-disulfide reductase activity</a></li></ul>
</div></td></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Cellular component</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="">
<ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0030016">myofibril</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005759">mitochondrial matrix</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005743">mitochondrial inner membrane</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005739">mitochondrion</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0031305">integral component of mitochondrial inner membrane</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016020">membrane</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016021">integral component of membrane</a></li></ul>
</div></td></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Biological process</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="">
<ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006878">cellular copper ion homeostasis</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006825">copper ion transport</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001654">eye development</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0008535">respiratory chain complex IV assembly</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0045454">cell redox homeostasis</a></li>
<li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0033617">mitochondrial cytochrome c oxidase assembly</a></li></ul>
</div></td></tr><tr><td colspan="4" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center">Sources:<a rel="nofollow" class="external text" href="http://amigo.geneontology.org/">Amigo</a> / <a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/QuickGO/">QuickGO</a></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="Orthologs" class="mw-redirect" title="Orthologs">Orthologs</a></th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Species</th><td><b>Human</b></td><td><b>Mouse</b></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Entrez" title="Entrez">Entrez</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=9997&rn=1">9997</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=100126824&rn=1">100126824</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="Ensembl" class="mw-redirect" title="Ensembl">Ensembl</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000284194;db=core">ENSG00000284194</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000091780;db=core">ENSMUSG00000091780</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="UniProt" title="UniProt">UniProt</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/O43819">O43819</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"></th></tr><tr><td colspan="1"><p class=""><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/Q8VCL2">Q8VCL2</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">RefSeq (mRNA)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class=""></th></tr><tr><td colspan="1"><p><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_005138">NM_005138</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001169109">NM_001169109</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001169110">NM_001169110</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001169111">NM_001169111</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class=""></th></tr><tr><td colspan="1"><p><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001111288">NM_001111288</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">RefSeq (protein)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class=""></th></tr><tr><td colspan="1"><p><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001162580">NP_001162580</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001162581">NP_001162581</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001162582">NP_001162582</a><br><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_005129">NP_005129</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class=""></th></tr><tr><td colspan="1"><p><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001104758">NP_001104758</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Location (UCSC)</th><td><span class=""><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&position=chr22:50523568-50526461">Chr 22: 50.52 – 50.53 Mb</a></span></td><td><span class=""><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Mouse&db=mm0&position=chr15:89255840-89258049">Chr 15: 89.26 – 89.26 Mb</a></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="PubMed" title="PubMed">PubMed</a> search</th><td><span class=""><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></span></td><td><span class=""><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><a href="Wikidata" title="Wikidata">Wikidata</a></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center"><a href="https://www.wikidata.org/wiki/Q18034942" class="extiw external" title="d:Q18034942">View/Edit Human</a></td><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center"><a href="https://www.wikidata.org/wiki/Q18318839" class="extiw external" title="d:Q18318839">View/Edit Mouse</a></td></tr></tbody></table></td></tr></tbody></table>
<p><b>SCO2 cytochrome c oxidase assembly</b> (also known as <b>SCO2 homolog, mitochondrial</b> and <b>SCO cytochrome oxidase deficient homolog 2</b>) is a <a href="Protein" title="Protein">protein</a> that in humans is encoded by the <i>SCO2</i> <a href="Gene" title="Gene">gene</a>.<sup id="cite_ref-pmid10218584_5-0" class="reference"><a href="#cite_note-pmid10218584-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid16091356_6-0" class="reference"><a href="#cite_note-pmid16091356-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-entrez_7-0" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> The encoded protein is one of the <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">cytochrome c oxidase (COX)</a>(Complex IV) assembly factors. Human <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">COX</a> is a multimeric <a href="Protein_complex" title="Protein complex">protein complex</a> that requires several assembly factors. <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Cytochrome c oxidase (COX)</a> <a href="Catalysis" title="Catalysis">catalyzes</a> the transfer of electrons from <a href="Cytochrome_c" title="Cytochrome c">cytochrome c</a> to <a href="Molecular_oxygen" class="mw-redirect" title="Molecular oxygen">molecular oxygen</a>, which helps to maintain the <a href="Proton_gradient" class="mw-redirect" title="Proton gradient">proton gradient</a> across the <a href="Inner_mitochondrial_membrane" title="Inner mitochondrial membrane">inner mitochondrial membrane</a> that is necessary for aerobic <a href="Adenosine_triphosphate" title="Adenosine triphosphate">ATP</a> production. The encoded protein is a <a href="Chaperone_(protein)" title="Chaperone (protein)">metallochaperone</a> that is involved in the biogenesis of <a href="Cytochrome_c_oxidase_subunit_II" class="mw-redirect" title="Cytochrome c oxidase subunit II">cytochrome c oxidase subunit II</a>. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and <a href="Myopia" title="Myopia">myopia</a> 6.<sup id="cite_ref-entrez_7-1" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup>
</p>
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<div class="mw-heading mw-heading2"><h2 id="Structure">Structure</h2></div>
<p>The <i>SCO2</i> gene is located on the <a href="Locus_(genetics)" title="Locus (genetics)">q arm</a> of <a href="Chromosome_22" title="Chromosome 22">chromosome 22</a> at position 13.33 and it spans 2,871 base pairs.<sup id="cite_ref-entrez_7-2" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> The <i>SCO2</i> gene produces a 15.1 kDa protein composed of 136 <a href="Amino_acids" class="mw-redirect" title="Amino acids">amino acids</a>.<sup id="cite_ref-COPaKB_8-0" class="reference"><a href="#cite_note-COPaKB-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-url_COPaKB_9-0" class="reference"><a href="#cite_note-url_COPaKB-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> The protein contains an <a href="N-terminal" class="mw-redirect" title="N-terminal">N-terminal</a> mitochondrial targeting presequence of 41 <a href="Amino_acids" class="mw-redirect" title="Amino acids">amino acids</a>, and shares identity with the <a href="Yeast" title="Yeast">yeast</a> protein in regions between <a href="Glycine" title="Glycine">glycine</a>-102 and <a href="Glycine" title="Glycine">glycine</a>-242 in human SCO2.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> SCO2 is a subunit of the enzyme <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Mammalian cytochrome c oxidase (COX)</a>(Complex IV).<sup id="cite_ref-entrez_7-3" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Function">Function</h2></div>
<p>The <i>SCO2</i> gene encodes for a <a href="Protein" title="Protein">protein</a> essential for the assembly and function of <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Mammalian cytochrome c oxidase (COX)</a>(Complex IV) of the <a href="Mitochondrial_respiratory_chain" class="mw-redirect" title="Mitochondrial respiratory chain">mitochondrial respiratory chain</a>. SCO2 acts as a <a href="Chaperone_(protein)" title="Chaperone (protein)">metallochaperone</a> involved in the <a href="Biogenesis" class="mw-redirect" title="Biogenesis">biogenesis</a> of <a href="Cytochrome_c_oxidase_subunit_II" class="mw-redirect" title="Cytochrome c oxidase subunit II">cytochrome c oxidase subunit II</a>, an essential subunit of <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Complex IV</a> which transfers the electrons from <a href="Cytochrome_c" title="Cytochrome c">cytochrome c</a> to the bimetallic center of the <a href="Cytochrome_c_oxidase_subunit_I" title="Cytochrome c oxidase subunit I">catalytic subunit 1</a> via its binuclear copper A center.<sup id="cite_ref-hehe_11-0" class="reference"><a href="#cite_note-hehe-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> The biogenesis involves the transport of copper to the Cu(A) site on the <a href="Cytochrome_c_oxidase_subunit_II" class="mw-redirect" title="Cytochrome c oxidase subunit II">cytochrome c oxidase subunit II</a> leading to the proper synthesis and maturation of the subunit. In addition, SCO2 acts as a <a href="Thiol" title="Thiol">thiol</a>-<a href="Disulfide" title="Disulfide">disulfide</a> <a href="Oxidoreductase" title="Oxidoreductase">oxidoreductase</a> to regulate the redox state of the <a href="Cystein" class="mw-redirect" title="Cystein">cysteines</a> in <a href="SCO1" title="SCO1">SCO1</a> during maturation of the <a href="Cytochrome_c_oxidase_subunit_II" class="mw-redirect" title="Cytochrome c oxidase subunit II">cytochrome c oxidase subunit II</a>. The maturation and synthesis of <a href="Cytochrome_c_oxidase_subunit_II" class="mw-redirect" title="Cytochrome c oxidase subunit II">cytochrome c oxidase subunit II</a> is required for the function of <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Mammalian cytochrome c oxidase (COX)</a>(Complex IV).<sup id="cite_ref-uniprot0_12-0" class="reference"><a href="#cite_note-uniprot0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-uniprot2_13-0" class="reference"><a href="#cite_note-uniprot2-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">Complex IV</a>, a multimeric <a href="Protein_complex" title="Protein complex">protein complex</a> that requires several assembly factors, <a href="Catalysis" title="Catalysis">catalyzes</a> the transfer of reducing equivalents from <a href="Cytochrome_c" title="Cytochrome c">cytochrome c</a> to molecular <a href="Oxygen" title="Oxygen">oxygen</a> and pumps <a href="Protons" class="mw-redirect" title="Protons">protons</a> across the <a href="Inner_mitochondrial_membrane" title="Inner mitochondrial membrane">inner mitochondrial membrane</a>.<sup id="cite_ref-entrez_7-4" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Clinical_significance">Clinical significance</h2></div>
<p>Mutations in <i>SCO2</i> that alter the regulation of <a href="Copper" title="Copper">copper</a> and <a href="Oxygen" title="Oxygen">oxygen</a> have been found to be associated with fatal infantile Cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 (CEMCOX1), <a href="Myopia" title="Myopia">Myopia 6</a> (MYP6), and <a href="Leigh_syndrome" title="Leigh syndrome">Leigh syndrome</a> (LS).<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-uniprot0_12-1" class="reference"><a href="#cite_note-uniprot0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> CEMCOX1 is characterized by disorders characterized by <a href="Hypotonia" title="Hypotonia">hypotonia</a>, <a href="Developmental_disability" title="Developmental disability">developmental delay</a>, <a href="Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">hypertrophic cardiomyopathy</a>, <a href="Lactic_acidosis" title="Lactic acidosis">lactic acidosis</a>, <a href="Gliosis" title="Gliosis">gliosis</a>, neuronal loss in <a href="Basal_ganglia" title="Basal ganglia">basal ganglia</a>, <a href="Brainstem" title="Brainstem">brainstem</a> and <a href="Spinal_cord" title="Spinal cord">spinal cord</a>, and <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">cytochrome c oxidase</a> deficiency. <a href="Myopia" title="Myopia">Myopia 6</a> is characterized by a <a href="Refraction" title="Refraction">refractive</a> error of the eye, in which parallel rays from a distant object come to focus in front of the <a href="Retina" title="Retina">retina</a>, vision being better for near objects than for far. Lastly, <a href="Leigh_syndrome" title="Leigh syndrome">leigh syndrome</a> is an early-onset progressive <a href="Neurodegeneration" class="mw-redirect" title="Neurodegeneration">neurodegenerative disorder</a> characterized by the presence of focal, bilateral <a href="Lesion" title="Lesion">lesions</a> in one or more areas of the <a href="Central_nervous_system" title="Central nervous system">central nervous system</a> including the <a href="Brainstem" title="Brainstem">brainstem</a>, <a href="Thalamus" title="Thalamus">thalamus</a>, <a href="Basal_ganglia" title="Basal ganglia">basal ganglia</a>, <a href="Cerebellum" title="Cerebellum">cerebellum</a> and <a href="Spinal_cord" title="Spinal cord">spinal cord</a>. Clinical manifestations may include <a href="Psychomotor_retardation" title="Psychomotor retardation">psychomotor retardation</a>, <a href="Hypotonia" title="Hypotonia">hypotonia</a>, <a href="Ataxia" title="Ataxia">ataxia</a>, weakness, <a href="Vision_loss" class="mw-redirect" title="Vision loss">vision loss</a>, <a href="Eye_movement" title="Eye movement">eye movement</a> abnormalities, <a href="Seizures" class="mw-redirect" title="Seizures">seizures</a>, and <a href="Dysphagia" title="Dysphagia">dysphagia</a>.<sup id="cite_ref-uniprot0_12-2" class="reference"><a href="#cite_note-uniprot0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> A pathogenic mutation of G1541A in a patient has shown strong evidence in neonatal <a href="Hypotonia" title="Hypotonia">hypotonia</a> with an SMA 1 phenotype, and has been found to result in less <a href="Cytochrome_c_oxidase" title="Cytochrome c oxidase">COX</a> deficiencies.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> A mutation of 1602T>G has been found to result in rapidly progressive disease <a href="Phenotypes" class="mw-redirect" title="Phenotypes">phenotypes</a>.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Other pathogenic mutations have included a <a href="Missense_mutation" title="Missense mutation">missense mutation</a> of E140K, a <a href="Nonsense_mutation" title="Nonsense mutation">nonsense mutation</a> Q53X, and a 1541G > A mutation which resulted in a severe protein instability.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Interactions">Interactions</h2></div>
<p>In addition to co-complex interactions, SCO2 has been found to interact with <a href="COA6" title="COA6">COA6</a>, THEM177 in a <a href="COX20" title="COX20">COX20</a>-dependent manner, <a href="COX20" title="COX20">COX20</a>, COX16, <a href="SCO1" title="SCO1">SCO1</a>, and others.<sup id="cite_ref-uniprot0_12-3" class="reference"><a href="#cite_note-uniprot0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="References">References</h2></div>
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<li id="cite_note-refGRCh38Ensembl-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-refGRCh38Ensembl_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000284194">GRCh38: Ensembl release 89: ENSG00000284194</a> – <a href="Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span>
</li>
<li id="cite_note-refGRCm38Ensembl-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-refGRCm38Ensembl_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000091780">GRCm38: Ensembl release 89: ENSMUSG00000091780</a> – <a href="Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span>
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<div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2></div>
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<div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2></div>
<ul><li><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=SCO2"><i>SCO2</i></a> human gene location in the <a href="UCSC_Genome_Browser" title="UCSC Genome Browser">UCSC Genome Browser</a>.</li>
<li><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=SCO2"><i>SCO2</i></a> human gene details in the <a href="UCSC_Genome_Browser" title="UCSC Genome Browser">UCSC Genome Browser</a>.</li></ul></div><!--htdig_noindex--><div><div class="zim-footer">
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