COXFA4 Chromosome 7
Cytochrome c oxidase associated subunit FA4
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What This Gene Does
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
7p21.3
Ensembl
ENSG00000189043
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 21
Key Variants
RS142434889
Conflicting classifications of pathogenicity
Health Risk
RS2128302580
Likely pathogenic
Health Risk
RS552689119
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency
Health Risk
RS1781236368
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency
Health Risk
RS2534043245
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142434889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2128302580 | Health Risk | Likely pathogenic | — |
| RS552689119 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency |
| RS1781236368 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency |
| RS2534043245 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 21, Mitochondrial complex IV deficiency |