COX6A2 - cytochrome c oxidase subunit 6A2 Gene
Also Known as COX6AH; COXVIAH; MC4DN18; COXVIa-M
Species: Homo sapiens
About COX6A2
This gene has 2 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 177.9), prostate (RPKM 30.1) and 1 other tissue.
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 electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
COX6A2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005205.4 | NP_005196.1 | cytochrome c oxidase subunit 6A2, mitochondrial precursor |
COX6A2 Protein Structure
COX6A: Cytochrome c oxidase subunit VIa (16 - 90)
- 0
- 97 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
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cytochrome c oxidase subunit 6A2, mitochondrial |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
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| Isolated Cytochrome C Oxidase Deficiency |
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| Linear Skin Defects With Multiple Congenital Anomalies 3 |
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| 3-Methylglutaconic Aciduria, Type Iii |
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| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | COX6A2 | VGNC | VGNC:27637 |
| Rattus norvegicus | COX6A2 | RGD | RGD:2385 |
| Mus musculus | COX6A2 | MGD | MGI:104649 |
| Felis catus | COX6A2 | VGNC | VGNC:61109 |
| Macaca mulatta | COX6A2 | VGNC | VGNC:104690 |
| Canis familiaris | COX6A2 | VGNC | VGNC:54936 |
| Others | COX6A2 | NCBI |