Gene Symbol | COQ4 |
Entrez Gene ID | 51117 |
Full Name | coenzyme Q4 |
Synonyms | CGI-92,COQ10D7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. |
Disorder MIM: | |
Disorder Html: | Coenzyme Q10 deficiency, primary, 7, 616276 (3) |