靶标:
BCS1L
产品别名:
BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; MC3DN1; PTD; h-BCS; h-BCS1; BCS1L; BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone; BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone; mitochondrial chaperone BCS1; BC1 (ubiquinol-cytochrome c reductase) synthesis-like; BCS1-like protein; mitochondrial complex III assembly;
背景信息:
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. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016],