Gene Symbol | COQ8A |
Entrez Gene ID | 56997 |
Full Name | coenzyme Q8A |
Synonyms | ADCK3,ARCA2,CABC1,COQ10D4,COQ8,SCAR9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Coenzyme Q10 deficiency, primary, 4, 612016 (3) |