Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)

BSCL2 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.