The BSCL2 gene encodes the membrane protein named Seipin, with different functions ranging implicated in metabolism and fat droplet formation.
There are two predominant mutations implicated in the majority of patients with BSCL2-related dHMN, the p.Asn88Ser and the p.Ser90Leu. Two other mutations have been described to date.
More aggressive mutations with recessive inheritance lead to the already mentioned congenital generalized lipodystrophy.
BSCL2