COA8

Chr 14

cytochrome c oxidase assembly factor 8

Also known as: APOP, APOP1, APOPT1, C14orf153, MC4DN17

NCBI Gene: 84334 ENSG00000256053 UniProt: Q96IL0

COA8 encodes a mitochondrial protein required for cytochrome c oxidase (complex IV) assembly and function, protecting the assembly process from oxidation-induced degradation. Biallelic mutations cause autosomal recessive mitochondrial complex IV deficiency, which typically presents as a multi-system disorder affecting energy metabolism. The gene shows minimal constraint against loss-of-function variants (pLI 0.0002, LOEUF 1.25), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex IV deficiency, nuclear type 17

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)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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