BSCL2 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant BSCL2.
|Application ||WB, E|
|Calculated MW||44392 Da|
|Other Names||Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein, BSCL2|
|Target/Specificity||BSCL2 (NP_116056, 259 a.a. ~ 357 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||BSCL2 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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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.
Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. Wu YR, et al. J Neurol Neurosurg Psychiatry, 2009 Oct. PMID 19762912.The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Chen W, et al. Endocrinology, 2009 Oct. PMID 19574402.Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. Nishiyama A, et al. Pediatr Int, 2009 Dec. PMID 19438831.A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Brusse E, et al. Neurogenetics, 2009 Oct. PMID 19396477.Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2. Chen B, et al. Neuropathology, 2009 Oct. PMID 19323790.
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