Recombinant Human Surfeit locus protein 1 (SURF1), Truncated

Uniprot Id

Q15526

Target Species

Human

Target Name

SURF1

Target Full Name

Surfeit locus protein 1

Target Function

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

Target Involvement

Leigh syndrome (LS); Charcot-Marie-Tooth disease 4K (CMT4K)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

SURF1 family

Target Synonyms

SURF1; SURF-1; Surfeit locus protein 1

Target Background

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.