Consistent with this role in LD biogenesis, human patients carrying loss-of-function mutations in BSCL2, the gene encoding for seipin, suffer from Berardinelli-Seip congenital lipodystrophy (Magre et al., 2001), a severe recessive disease characterized by abnormal fat deposition. The gene discussed is BSCL2; the disease is Berardinelli-Seip congenital lipodystrophy.