Gene Symbol | SURF1 |
Entrez Gene ID | 6834 |
Full Name | SURF1, cytochrome c oxidase assembly factor |
Synonyms | CMT4K |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome, due to COX IV deficiency, 256000 (3); Charcot-Marie-Tooth disease, type 4K, 616684 (3) |