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BSCL2 encodes the multi-pass transmembrane protein protein seipin. Additionally we are shipping BSCL2 Antibodies (40) and BSCL2 Proteins (9) and many more products for this protein.
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Increased aggregation and subsequent impaired oligomerization of Celia seipin leads to cell death. In heterozygous carriers, wildtype seipin might prevent the damage caused by mutant seipin through its sequestration into harmless mixed oligomers.
BSCL2 defines the localization of adipose differentiation-related protein (show PLIN2 ELISA Kits), which has a role in lipid accumulation and adipogenic differentiation
BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with distal hereditary motor neuropathy.
We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis
The S90L mutationof BSCL2 is predominantly associated with Silver syndrome
The mutation of seipin at glycosylation sites disrupt its function in regulating lipid droplet metabolism, and the autophagy acts as an adaptive response to break down abnormal lipid droplets.
a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis.
A missense mutation was found in BSCL2 N88S, in a patient with Silver syndrome.
A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy.
Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice.
The results indicate that, by reducing PPARgamma (show PPARG ELISA Kits), seipin deficiency impairs proliferation and differentiation of neural stem and progenitor cells.
Authors generated adipose tissue (mature) Bscl2 knockout (Ad-mKO) mice to investigate the impact of acquired Bscl2 deletion on adipose tissue function and energy balance.
The present study provides in vivo evidence that neuronal seipin deficiency leads to spatial cognitive deficits thtat can be rescued by the activation of PPARgamma (show PPARG ELISA Kits).
spermatid apoptosis, increased chromocenter fragmentation, abnormal acrosome formation, and defective mitochondrial activity contributed to decreased sperm production and defective sperm that resulted in Bscl2-/- male infertility.
Bscl2(-/-) females have accelerated postnatal mammary ductal development but delayed vaginal opening; they display segregated responses in mammary gland development and vaginal opening to prepubertal genistein treatment.
Using the lipodystrophic Seipin-deficient mouse (Seipin(-/-)) model, the study found Seipin(-/-) mice were unable to respond appropriately to a long time fasting and developed postprandial hypertriglyceridemia.
Neuronal seipin deficiency causing reduced PPARgamma (show PPARG ELISA Kits) levels leads to affective disorders in male mice that are rescued by estradiol-increased PPARgamma (show PPARG ELISA Kits) expression.
New insights into the metabolic adaptations of liver in response to fasting and uncovered a novel fasting-dependent regulation of hepatic insulin (show INS ELISA Kits) signaling in a mouse model of human Berardinelli-Seip congenital lipodystrophy type 2.
other than being essential for adipocyte differentiation, Bscl2 is also important in fatty acid remodeling and energy homeostasis.
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).
Bernardinelli-Seip congenital lipodystrophy type 2 protein
, Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
, bernardinelli-Seip congenital lipodystrophy type 2 protein homolog
, G protein gamma 3 linked