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.
BSCL2 open reading frame encodes a deduced 398-amino acid protein, seipin, with at least 2 hydrophobic amino acid stretches, indicating that it could be a transmembrane protein. It has 87% identity to the mouse Gng3lg product, and partial homology to Drosophila CG9904 protein.