Entrez gene ID | | 26580 |
Official gene symbol | | BSCL2 |
Full name | | Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
Aliases | | ,FLJ16651,GNG3LG,HMN5,MGC4694,SPG17, |
Gene summary | | This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q12-q13.5 |
Gene position | | 62477046 - 62457747 Map Viewer |
Gene orientation | | minus |
Gene size | | 19300 bp |
Gene sequence |
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OMIM ID | | 606158 |