COX6C

Chr 8

cytochrome c oxidase subunit 6C

NCBI Gene: 1345 ENSG00000164919 UniProt: P09669

The COX6C protein is a structural subunit of cytochrome c oxidase (complex IV), the terminal enzyme in the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water during oxidative phosphorylation. Mutations in COX6C cause autosomal recessive mitochondrial complex IV deficiency, typically presenting in infancy with hypotonia, developmental delay, and multi-organ dysfunction affecting the brain, heart, and skeletal muscle. The gene shows low constraint to loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.68

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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