This gene encodes protein seipin, which is located in thenendoplasmic reticulum and may be important for lipid dropletnmorphology. Mutations in this gene have been associated withncongenital generalized lipodystrophy type 2 or Berardinelli-Seipnsyndrome, a rare autosomal recessive disease characterized by annear absence of adipose tissue and severe insulin resistance.nAlternatively spliced transcript variants encoding differentnisoforms have been found for this gene.
应用类型
WB,IHC
免疫原
This BSCL2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 78-107 amino acids from the N-terminal region of human BSCL2.
