Aliases for SURF1 Gene
External Ids for SURF1 Gene
Previous GeneCards Identifiers for SURF1 Gene
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]
GeneCards Summary for SURF1 Gene
SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with SURF1 include Charcot-Marie-Tooth Disease, Type 4K and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is SURF4.
UniProtKB/Swiss-Prot Summary for SURF1 Gene
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.