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
Previous GeneCards Identifiers 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 fatal infantile cytochrome c oxidase deficiency. 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.