Although little is known about the function of seipin, it is highly expressed in the brain, and inheritance of mutated forms of the seipin gene have been shown to cause a number of human disorders, including Berardinelli-Seip congenital lipodystrophy, autosomal-dominant distal hereditary motor neuropathy type V and Silver syndrome. Here, BSCL2 is linked to Berardinelli-Seip congenital lipodystrophy.