BSCL2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BSCL2 wild-type allele is located in the vicinity of 11q12.3 and is approximately 21 kb in length. This allele, which encodes seipin protein, is involved in the formation of lipid droplets. Mutations in the gene are associated with Berardinelli-Seip congenital lipodystrophy 2.

**Synonyms:** - BSCL2 Lipid Droplet Biogenesis Associated, Seipin wt Allele - BSCL2, Seipin Lipid Droplet Biogenesis Associated Gene - Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) Gene - GNG3LG - GNG3LG, Mouse, Homolog of Gene - HMN5 - HMN5C - HMND13 - PELD - SPG17 - Spastic Paraplegia 17 (Silver Syndrome) Gene