COX18

Chr 4

cytochrome c oxidase assembly factor COX18

Also known as: CMT2MM, COX18HS, MC4DN25, OXA1L2

NCBI Gene: 285521 ENSG00000163626 UniProt: Q8N8Q8

This gene encodes a mitochondrial membrane insertase that translocates cytochrome c oxidase subunit II across the mitochondrial inner membrane and is essential for respiratory chain complex IV assembly and stability. Mutations cause autosomal recessive mitochondrial complex IV deficiency and Charcot-Marie-Tooth disease type 2MM, an axonal peripheral neuropathy. The gene appears relatively tolerant to loss-of-function variants based on constraint metrics.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex IV deficiency, nuclear type 25

UniProtCharcot-Marie-Tooth disease, axonal, type 2MM

Clinical highlights

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

1.70

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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