Analysis of BSCL2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2454-LGZ)

Introduction

Official Full Name: BSCL2 lipid droplet biogenesis associated, seipin<br />Also known as: HMN5; PELD; HMN5C; SPG17; GNG3LG<br />This gene encodes the multigenerational transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene are associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disorder characterized by little to no fat tissue and severe insulin resistance. Alternative splice transcript variants of this gene have been found to encode distinct isoforms. Naturally occurring through-transcription occurs between this site and the adjacent site HNRNPUL2 (heterogeneous nuclear ribonucleoprotein u-like 2).