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).
References
External links GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy
Further reading