COA5 Chromosome 2
Cytochrome c oxidase assembly factor 5
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What This Gene Does
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000183513
Associated Conditions (3)
Cardioencephalomyopathy
fatal infantile
due to cytochrome c oxidase deficiency 3
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372867268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387907099 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |