Aliases for COX6A1 Gene
External Ids for COX6A1 Gene
Previous HGNC Symbols for COX6A1 Gene
Previous GeneCards Identifiers for COX6A1 Gene
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX6A1 Gene
COX6A1 (Cytochrome C Oxidase Subunit 6A1) is a Protein Coding gene. Diseases associated with COX6A1 include Charcot-Marie-Tooth Disease, Recessive Intermediate D and Charcot-Marie-Tooth Neuropathy Recessive Intermediate D. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A2.
UniProtKB/Swiss-Prot for COX6A1 Gene
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.