InterPro domain: IPR002994

This entry includes SURF1 and Shy1 proteins. The surfeit locus 1 gene (SURF1 or surf-1) encodes a conserved protein of about 300 amino-acid residues that seems to be involved in the biogenesis ofcytochrome c oxidase [ 1 ]. Vertebrate SURF1 is evolutionary related to yeastprotein Shy1, which is a mitochondrial inner membrane protein required for assembly of cytochrome c oxidase [ 2 ]. There seems to be two transmembrane regions in these proteins,one in the N-terminal, the other in the C-terminal.

Defects in SURF1 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterised by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency [ 3 , 3 , 4 ].

1. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20, 337-43
2. Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome. EMBO J. 21, 43-52
3. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum. Genet. 106, 194-205
4. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Hum. Genet. 105, 560-3