Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)

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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)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)CLIA Kit Customized Service Offer
n/aELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)CLIA Kit Customized Service Offer
n/aELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)CLIA Kit Customized Service Offer
n/aELISA Kit for Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)ELISA Kit Customized Service Offer
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  5. "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome."Nat. Genet. 36:271-276(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Membrane topology of the human seipin protein."FEBS Lett. 580:2281-2284(2006) [PubMed] [Europe PMC] [Abstract]
  7. "The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation."Diabetes 57:2055-2060(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17."Neurobiol. Dis. 31:266-277(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy."Biochimie 91:796-803(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation."PLoS Genet. 7:E1001364-E1001364(2011) [PubMed] [Europe PMC] [Abstract]
  11. "A new seipin-associated neurodegenerative syndrome."J. Med. Genet. 50:401-409(2013) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]