BCS1L, Official Symbol BCS1Lprovided by HGNC Official Full Name BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by HGNC Primary source HGNC:HGNC:1020 See related Ensembl:ENSG00000074582 MIM:603647; AllianceGenome:HGNC:1020 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 BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719 Summary 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] Expression Ubiquitous expression in skin (RPKM 9.0), ovary (RPKM 7.2) and 25 other tissues See more Orthologs mouse all