Aliases for BCS1L Gene
External Ids for BCS1L Gene
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
GeneCards Summary for BCS1L Gene
BCS1L (BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like) is a Protein Coding gene. Diseases associated with BCS1L include bjornstad syndrome and breast pericanalicular fibroadenoma. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. GO annotations related to this gene include nucleoside-triphosphatase activity.
UniProtKB/Swiss-Prot for BCS1L Gene
Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.