SURF1, Official Symbol SURF1provided by HGNC Official Full Name SURF1 cytochrome c oxidase assembly factorprovided by HGNC Primary source HGNC:HGNC:11474 See related Ensembl:ENSG00000148290 MIM:185620; AllianceGenome:HGNC:11474 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHY1; CMT4K; MC4DN1 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 18.7), kidney (RPKM 18.3) and 25 other tissues See more Orthologs mouse all