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Description
This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Synonyms: Polyclonal BSCL2 antibody, Anti-BSCL2 antibody, Berardinelli-Seip congenital lipodystrophy 2, seipin antibody, GNG3LG antibody, HMN5 antibody, MGC4694 antibody, SPG17 antibody.
Immunogen
BSCL2 antibody was raised in rabbit using the C terminal of BSCL2 as the immunogen