BSCL2 : BSCL2 lipid droplet biogenesis associated, seipin

Description

The BSCL2 gene encodes for seipin, a protein crucial for lipid droplet formation and homeostasis. It plays a pivotal role in regulating lipid metabolism, particularly in skeletal muscle and adipose tissue. Seipin is also involved in the assembly of the endoplasmic reticulum, a vital organelle for protein synthesis and lipid biosynthesis. Mutations in the BSCL2 gene can disrupt these processes, leading to a spectrum of inherited disorders characterized by muscle weakness, fat accumulation, and metabolic abnormalities.

Associated Diseases

• Berardinelli-Seip congenital lipodystrophy (BSCL)
• Severe congenital generalized lipodystrophy (SGL)
• Mandibuloacral dysplasia with type A lipodystrophy (MADD)
• Hypertrophic cardiomyopathy with lipodystrophy (HCLD)
• Familial partial lipodystrophy

Did you know?

Seipin‘s role in lipid droplet formation is so essential that its absence in model organisms like yeast and worms results in lethal developmental defects.