Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)

BSCL2; GNG3LG; SPG17; Seipin; Spastic Paraplegia 17
Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)
BSCL2 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.
BSCL2 open reading frame encodes a deduced 398-amino acid protein, seipin, with at least 2 hydrophobic amino acid stretches, indicating that it could be a transmembrane protein. It has 87% identity to the mouse Gng3lg product, and partial homology to Drosophila CG9904 protein.
Organism species: Homo sapiens (Human)
  • Protein RPK182Hu01Recombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyPAK182Hu01Polyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyMAK182Hu21Monoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSEK182HuELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSCK182HuCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
Organism species: Mus musculus (Mouse)
  • Protein RPK182Mu01Recombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyPAK182Mu01Polyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyMAK182Mu21Monoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSEK182MuELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSCK182MuCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
Organism species: Rattus norvegicus (Rat)
  • Protein RPK182Ra01Recombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyPAK182Ra01Polyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • AntibodyMAK182Ra21Monoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSEK182RaELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
  • Assay KitSCK182RaCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Customize
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