Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), the most severe form of lipodystrophy that leads to loss of nearly all subcutaneous fat tissue, is caused by mutations in the BSCL2/seipin gene. Seipin is an integral endoplasmic reticulum (ER) protein and has been shown to play important roles in lipid droplet homeostasis and lipid storage.
Click here for original story, PC deficiency suppresses seipin: New insights into Berardinelli-Seip congenital lipodystrophy type 2
Source: Phys.org