COA6 Chromosome 1
Cytochrome c oxidase assembly factor 6
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What This Gene Does
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000168275
Associated Conditions (4)
See cases
Cardioencephalomyopathy
fatal infantile
due to cytochrome c oxidase deficiency 4
Key Variants
RS373436327
Conflicting classifications of pathogenicity
Health Risk
RS2103015324
Likely pathogenic
See cases, See cases
Health Risk
RS947861426
Likely pathogenic
See cases, See cases
Health Risk
RS1558123786
Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Health Risk
RS875989827
Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373436327 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2103015324 | Health Risk | Likely pathogenic | See cases, See cases |
| RS947861426 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1558123786 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
| RS875989827 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |