| Primary Identifier | IPR045214 | Type | Family |
| Short Name | Surf1/Surf4 |
| description | 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 []. Vertebrate SURF1 is evolutionary related to yeastprotein Shy1, which is a mitochondrial inner membrane protein required for assembly of cytochrome c oxidase []. 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 [, , ]. The surfeit locus gene SURF4 (or surf-4) encodes a conserved integral eukaryotic membrane protein of about 270 to 300 amino-acid residues that seems to be located in the endoplasmic reticulum []. |
