Surfeit-1 (SURF1) Human Recombinant Protein

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]

SURF1: Probably involved in the biogenesis of the COX complex. Defects in SURF1 are a cause of Leigh syndrome (LS). 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. Belongs to the SURF1 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Oxidoreductase; Mitochondrial; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 9q34.2

Cellular Component: integral to membrane; mitochondrial respiratory chain

Molecular Function: cytochrome-c oxidase activity; protein binding

Biological Process: ATP biosynthetic process; respiratory chain complex IV assembly; aerobic respiration; oxidative phosphorylation

Disease: Leigh Syndrome