BSCL2

Seipin is a protein that in humans is encoded by the BSCL2 gene.

Clinical significance
Mutations in BSCL2 are known to cause the following conditions:


 * Congenital generalized lipodystrophy type 2;
 * Spastic paraplegia 17, autosomal dominant (SPG17);
 * Neuronopathy, distal hereditary motor, 5C (HMN5C);
 * Encephalopathy, progressive, with or without lipodystrophy (PELD).