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SCO2 - SCO cytochrome c oxidase assembly protein 2
- Synonym(s) : SCO1L
- Previous symbols and names : MYP6, SCO (cytochrome oxidase deficient, yeast) homolog 2, SCO cytochrome oxidase deficient homolog 2 (yeast), SCO2, cytochrome c oxidase assembly protein, myopia 6
- Type : gene with protein product
- Chromosomal location : 22q13.33
- OMIM: 604272
- HGNC: 10604
- UniProtKB: O43819
- Genatlas: SCO2
- Ensembl: ENSG00000130489
- IUPHAR-DB: -
- Reactome: O43819
- LOVD: SCO2
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
ORPHA:521411 
- Disease-causing germline mutation(s) in Fatal infantile cytochrome C oxidase deficiency
ORPHA:1561 - Disease-causing germline mutation(s) in Rare isolated myopia
ORPHA:98619 - Candidate gene tested in Leigh syndrome with cardiomyopathy
ORPHA:70474
: AssessedAdditional information
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