COX6B1

Chr 19AR

cytochrome c oxidase subunit 6B1

Also known as: COX6B, COXG, COXVIb1, MC4DN7

NCBI Gene: 1340 ENSG00000126267 UniProt: P14854 OMIM: 124089

The COX6B1 protein is a nuclear-encoded structural subunit of cytochrome c oxidase (complex IV) that regulates assembly of this terminal mitochondrial respiratory chain enzyme responsible for electron transfer from cytochrome c to oxygen. Mutations cause mitochondrial complex IV deficiency nuclear type 7, presenting as severe infantile encephalomyopathy with autosomal recessive inheritance. The pathogenic mechanism involves impaired complex IV assembly leading to defective mitochondrial respiration.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Cytochrome c oxidase (COX), 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 VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 7MIM #619051

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

LOF

Mechanism· G2P