COX5A Chromosome 15
Cytochrome c oxidase subunit 5A
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What This Gene Does
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
15q24.2
Ensembl
ENSG00000178741
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 20
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142618460 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 20, Mitochondrial complex IV deficiency |
| RS2065346374 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 20, Mitochondrial complex IV deficiency |