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 ;
- Neuronopathy, distal hereditary motor, 5C ;
- Encephalopathy, progressive, with or without lipodystrophy.