Aliases for COX10 Gene
- COX10 Heme A:Farnesyltransferase Cytochrome C Oxidase Assembly Factor 2 3
- Heme O Synthase 2 4
- COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A: Farnesyltransferase (Yeast) 2
- Cytochrome C Oxidase Assembly Homolog 10 (Yeast) 2
- Protoheme IX Farnesyltransferase 2
- Mitochondrial 2
- EC 2.5.1.- 4
External Ids for COX10 Gene
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX10 Gene
COX10 (COX10 Heme A:Farnesyltransferase Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX10 include mitochondrial complex iv deficiency and leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cytochrome-c oxidase activity and protoheme IX farnesyltransferase activity.
UniProtKB/Swiss-Prot for COX10 Gene
Converts protoheme IX and farnesyl diphosphate to heme O.