Seipin/BSCL2 Products

Description

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]

Bioinformatics

Entrez	26580 Human
Product By Gene ID	26580
Alternate Names	Berardinelli-Seip congenital lipodystrophy 2 (seipin) Bernardinelli-Seip congenital lipodystrophy 2 (seipin) Bernardinelli-Seip congenital lipodystrophy type 2 protein BSCL2 FLJ16651 GNG3LG HMN5 MGC4694 Seipin spastic paraplegia 17 (Silver syndrome) SPG17