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BSCL2 - BSCL2 lipid droplet biogenesis associated, seipin
- Synonym(s) : seipin
- Previous symbols and names : BSCL2, seipin lipid droplet biogenesis associated, Berardinelli-Seip congenital lipodystrophy 2 (seipin), GNG3LG, SPG17, spastic paraplegia 17 (Silver syndrome)
- Type : gene with protein product
- Chromosomal location : 11q12.3
- OMIM: 606158
- HGNC: 15832
- UniProtKB: Q96G97
- Genatlas: BSCL2
- GenCC: BSCL2
- Ensembl: ENSG00000168000
- IUPHAR-DB: -
- Reactome: -
- LOVD: BSCL2
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant spastic paraplegia type 17
ORPHA:100998 
- Disease-causing germline mutation(s) in Congenital generalized lipodystrophy
ORPHA:528 - Disease-causing germline mutation(s) in Distal hereditary motor neuropathy type 5
ORPHA:139536 - Disease-causing germline mutation(s) in Severe neurodegenerative syndrome with lipodystrophy
ORPHA:363400
: AssessedAdditional information
Patient-centred resources for this gene
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