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BSCL2

Gene

BSCL2 lipid droplet biogenesis associated, seipin

HGNCHGNC:15832EnsemblENSG00000168000NCBI Gene26580
Locus: gene with protein productLocation: 11q12.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asGNG3LG · SPG17 · seipin
View full nomenclature history (6)
Previous symbolsGNG3LG, SPG17
Alias symbolsseipin
Previous namesspastic paraplegia 17 (Silver syndrome), Berardinelli-Seip congenital lipodystrophy 2 (seipin), BSCL2, seipin lipid droplet biogenesis associated

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Lipodystrophy

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.