Gene: SURF1
Alternate names for this Gene: CMT4K|MC4DN1
Gene Summary: 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.
Gene is located in Chromosome: 9
Location in Chromosome : 9q34.2
Description of this Gene: SURF1 cytochrome c oxidase assembly factor
Type of Gene: protein-coding
Gene: SURF2
Alternate names for this Gene: SURF-2
Gene Summary: This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues.
Gene is located in Chromosome: 9
Location in Chromosome : 9q34.2
Description of this Gene: surfeit 2
Type of Gene: protein-coding
rs863224228 in
SURF1;SURF2 gene and
Leigh Disease
PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.
PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.
PMID 18804471 2008 Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.