COX8A Chromosome 11

Cytochrome c oxidase subunit 8A
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000176340
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 1
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS869025575 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
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