COX14

Chr 12AR

cytochrome c oxidase assembly factor COX14

Also known as: C12orf62, MC4DN10, PCAG1

NCBI Gene: 84987 ENSG00000178449 UniProt: Q96I36 OMIM: 614478

The protein localizes to the mitochondrial outer membrane and coordinates early steps of cytochrome c oxidase (complex IV) subunit assembly, particularly synthesis and assembly of the COX I subunit. Mutations cause mitochondrial complex IV deficiency through an autosomal recessive inheritance pattern. The pathogenic mechanism involves dominant-negative effects.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Mitochondrial complex IV deficiency, nuclear type 10MIM #619053

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARLimitednot for standalone diagnostic reporting

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

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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