| Cytochrome C Oxidase, Subunit Via, Polypeptide 1 | OKDB#: 3193 |
| Symbols: | COX6A1 | Species: | human | ||
| Synonyms: | COX6A, COX6AL, MGC104500,COX6A, LIVER, COX6AL | Locus: | 12q24.2 in Homo sapiens |
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| General Comment | NCBI Summary: 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. | ||||
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| Follicle stages | Primordial | ||||
| Comment | Arraztoa JA, et al 2005 reported the identification of genes expressed in primate primordial oocytes. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 21, 2006, 12:53 p.m. | by: |
alex email:
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| last update: | June 21, 2006, 12:53 p.m. | by: | alex email: |
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