Orphanet: BSCL2 lipid droplet biogenesis associated, seipin

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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
  • Ensembl: ENSG00000168000
  • IUPHAR-DB: -
  • Reactome: -

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

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