Gene Symbol | BCS1L |
Entrez Gene ID | 617 |
Full Name | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
Synonyms | BCS,BCS1,BJS,FLNMS,GRACILE,Hs.6719,MC3DN1,PTD,h-BCS,h-BCS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex III deficiency, nuclear type 1, 124000 (3); Leigh syndrome, 256000 (3); Bjornstad syndrome, 262000 (3); GRACILE syndrome, 603358 (3) |