BSCL2 Antibody (N-term) from MyBioSource.com

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