COXFA4

Chr 7AR

cytochrome c oxidase associated subunit FA4

Also known as: CI-9k, CI-MLRQ, MC4DN21, MISTR1, MLRQ, MRCAF1, NDUFA4

NCBI Gene: 4697 ENSG00000189043 UniProt: O00483 OMIM: 603833

COXFA4 encodes a component of cytochrome c oxidase (complex IV) that is required for complex IV maintenance and catalyzes the reduction of oxygen to water in the mitochondrial electron transport chain. Mutations cause mitochondrial complex IV deficiency, nuclear type 21, which is inherited in an autosomal recessive pattern. This condition affects the mitochondrial respiratory chain and energy production in cells.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…