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]
Function:
Probably involved in the biogenesis of the COX complex.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in SURF1 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency.
Similarity:
Belongs to the SURF1 family.
SWISS:
Q15526
Gene ID:
6834
Database links:
Entrez Gene: 6834 Human
Entrez Gene: 20930 Mouse
Entrez Gene: 64463 Rat
Omim: 185620 Human
SwissProt: Q15526 Human
SwissProt: P09925 Mouse
SwissProt: Q9QXU2 Rat
Unigene: 512464 Human
Unigene: 347512 Mouse
Unigene: 74313 Rat
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