COX19

Chr 7

cytochrome c oxidase assembly factor COX19

NCBI Gene: 90639 ENSG00000240230 UniProt: Q49B96

COX19 encodes an assembly factor for cytochrome c oxidase (complex IV of the mitochondrial respiratory chain) that acts as a COX11 chaperone supporting copper coordination and stimulates copper delivery to COX1 and COX2. Mutations cause mitochondrial complex IV deficiency, an autosomal recessive disorder typically presenting in infancy or early childhood with neurodegeneration, developmental delay, and multi-organ dysfunction. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.91

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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