Official Full Name

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Background

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.

Synonyms

BSCL2; Berardinelli-Seip congenital lipodystrophy 2 (seipin); GNG3LG, spastic paraplegia 17 (Silver syndrome) , SPG17; seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein; HMN5; SPG17; GNG3LG; MGC4694; FLJ16651; FLJ16651, GNG3LG, HMN5, MGC4694, SPG17, BSCL2; zgc:123260; Bernardinelli-Seip congenital lipodystrophy 2 (seipin)