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Bcs1l

Official Full Name
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Background
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. Two alternatively spliced transcripts encoding the same protein have been described.
Synonyms
BCS1L; BCS1-like (S. cerevisiae); BCS1 (yeast homolog) like , BCS1 like (yeast); mitochondrial chaperone BCS1; BCS; Bjornstad syndrome; BJS; GRACILE syndrome; h BCS; Hs.6719; BCS 1; BCS 1L; BCS1 (yeast homolog) like; BCS1; BCS1 like; BCS1 like protein; Bjornstad syndrome (pili torti and deafness); FLNMS; GRACILE; H BCS1; Mitochondrial complex III assembly; PTD; h-BCS1; BCS1-like protein; OTTHUMP00000164147; OTTHUMP00000206492; OTTHUMP00000206493; OTTHUMP00000206494; OTTHUMP00000206495; OTTHUMP00000206496; OTTHUMP00000206497; h-BCS; BCS, BJS, PTD, BCS1, FLNMS, h-BCS, GRACILE, Hs.6719; BC1 (ubiquinol-cytochrome c reductase) synthesis-like; zgc:56205

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