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 Alzheimer's disease and Cardiac muscle contraction. 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.