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COX4I1 - cytochrome c oxidase subunit 4I1
- Synonym(s) : COX4-1
- Previous symbols and names : COX4, cytochrome c oxidase subunit IV, cytochrome c oxidase subunit IV isoform 1
- Type : gene with protein product
- Chromosomal location : 16q24.1
- OMIM: 123864
- HGNC: 2265
- UniProtKB: P13073
- Genatlas: COX4I1
- Ensembl: ENSG00000131143
- IUPHAR-DB: -
- Reactome: P13073
- LOVD: COX4I1
Diseases list
- Disease-causing germline mutation(s) in Isolated cytochrome C oxidase deficiency
ORPHA:254905 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
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Specialised Social Services
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