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BCS1L - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
- Synonym(s) : BCS, Bjornstad syndrome, BJS, GRACILE syndrome, h-BCS, Hs.6719
- Previous symbols and names : BC1 (ubiquinol-cytochrome c reductase) synthesis-like, BCS1 (yeast homolog)-like, BCS1-like (S. cerevisiae), BCS1-like (yeast)
- Type : gene with protein product
- Chromosomal location : 2q35
- OMIM: 603647
- HGNC: 1020
- UniProtKB: Q9Y276
- Genatlas: BCS1L
- Ensembl: ENSG00000074582
- IUPHAR-DB: -
- Reactome: Q9Y276
- LOVD: BCS1L
Diseases list
- Disease-causing germline mutation(s) in Björnstad syndrome
ORPHA:123 
- Disease-causing germline mutation(s) in GRACILE syndrome
ORPHA:53693 - Disease-causing germline mutation(s) in Isolated complex III deficiency
ORPHA:1460 - Disease-causing germline mutation(s) in Renal tubulopathy-encephalopathy-liver failure syndrome
ORPHA:254902
: AssessedAdditional information
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Research activities on this gene
Specialised Social Services
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