BCS1L
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Mitochondrial chaperone BCS1 (BCS1L), also known as BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone (h-BCS1), is a protein that in humans is encoded by the BCS1L gene. BCS1L is a chaperone protein involved in the assembly of Ubiquinol Cytochrome c Reductase (complex III), which is located in the inner mitochondrial membrane and is part of the electron transport chain. Mutations in this gene are associated with mitochondrial complex III deficiency (nuclear, 1), GRACILE syndrome, and Bjoernstad syndrome.[5][6][7]
Quick Facts Identifiers, Aliases ...
BCS1L | |||||||||||||||||||||||||||||||
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Aliases | BCS1L, BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | ||||||||||||||||||||||||||||||
External IDs | OMIM: 603647 MGI: 1914071 HomoloGene: 3193 GeneCards: BCS1L | ||||||||||||||||||||||||||||||
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