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MT-CO2 - mitochondrially encoded cytochrome c oxidase II

Synonym(s) : CO2, COX2
Previous symbols and names : MTCO2, cytochrome c oxidase II
Type : gene with protein product
Chromosomal location : mitochondria
OMIM: 516040
HGNC: 7421
UniProtKB: P00403
Genatlas: MT-CO2
GenCC: MT-CO2
Ensembl: ENSG00000198712
IUPHAR-DB: -
Reactome: P00403
LOVD: MT-CO2

Diseases list

Disease-causing germline mutation(s) in MELAS ORPHA:550
Disease-causing germline mutation(s) (loss of function) in Isolated cytochrome C oxidase deficiency ORPHA:254905

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (48)

Research activities on this gene

Specialised Social Services

Eurordis directory

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