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BSCL2 Full-Length MS Protein Standard

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Product Description


NameBSCL2 Full-Length MS Protein Standard
Cat#CPFL303625
Protein NameBerardinelli-Seip congenital lipodystrophy 2 (seipin)
SymbolBSCL2
SynonymsGNG3LG; HMN5; PELD; SPG17
AccessionNM_032667
Cytogenetic11q13
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionBSCL2 Full-Length MS Protein Standard (NP_116056), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to 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. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).

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