Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) ELISA Kits

BSCL2 encodes the multi-pass transmembrane protein protein seipin. Zusätzlich bieten wir Ihnen BSCL2 Antikörper (39) und BSCL2 Proteine (9) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
BSCL2 26580 Q96G97
BSCL2 361722 Q5FVJ6
BSCL2 14705 Q9Z2E9
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Katalog Nr. Reaktivität Sensitivität Bereich Menge Anbieter Lieferzeit Preis Details
96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
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96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
945,85 €

Weitere ELISA Kits für BSCL2 Interaktionspartner

Human Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) Interaktionspartner

  1. Results provide evidence that the hepatic BSCL2 deficiency induces the increase and expansion of lipid droplets potentially via increased SCD1 (zeige SCD ELISA Kits) activity.

  2. results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids.

  3. Data show that all three patients exhibited characteristic features of congenital generalized lipodystrophy (CGL (zeige MGAT1 ELISA Kits)) due to mutations in the Bernardinelli-Seip congenital (BSCL2) gene.

  4. Together, these data suggest that seipin helps to connect newly formed lipid droplets to the endoplasmic reticulum and that by stabilizing endoplasmic reticulum-lipid droplet contacts seipin facilitates the incorporation of protein and lipid cargo into growing lipid droplets in human cells.

  5. 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.

  6. BSCL2 defines the localization of adipose differentiation-related protein (zeige PLIN2 ELISA Kits), which has a role in lipid accumulation and adipogenic differentiation

  7. 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.

  8. 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

  9. The S90L mutationof BSCL2 is predominantly associated with Silver syndrome

  10. 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.

Mouse (Murine) Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) Interaktionspartner

  1. Findings reveal a key cell-autonomous role for BSCL2 in controlling brown adipose tissue mass and activity.

  2. Our findings reveal that seipin knockout exacerbates cerebral I/R-induced damages by increasing BBB (zeige ALMS1 ELISA Kits) permeability, amplifying ER stress and increasing glucose levels, as well as decreasing leptin (zeige LEP ELISA Kits) and adiponectin (zeige ADIPOQ ELISA Kits) levels, indicating that seipin may be a potential therapeutic target for stroke.

  3. The results indicate that, by reducing PPARgamma (zeige PPARG ELISA Kits), seipin deficiency impairs proliferation and differentiation of neural stem and progenitor cells.

  4. 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.

  5. 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 (zeige PPARG ELISA Kits).

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. Neuronal seipin deficiency causing reduced PPARgamma (zeige PPARG ELISA Kits) levels leads to affective disorders in male mice that are rescued by estradiol-increased PPARgamma (zeige PPARG ELISA Kits) expression.

BSCL2 Antigen-Profil

Beschreibung des Gens

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).

Genbezeichner und Symbole assoziert mit BSCL2

  • Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2) Antikörper
  • Berardinelli-Seip congenital lipodystrophy 2 (seipin) (Bscl2) Antikörper
  • Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) (Bscl2) Antikörper
  • 2900097C17Rik Antikörper
  • AI046355 Antikörper
  • Gng3lg Antikörper
  • HMN5 Antikörper
  • SPG17 Antikörper

Bezeichner auf Proteinebene für BSCL2

Bernardinelli-Seip congenital lipodystrophy type 2 protein , seipin , Bernardinelli-Seip congenital lipodystrophy 2 (seipin) , bernardinelli-Seip congenital lipodystrophy type 2 protein homolog , G protein gamma 3 linked

26580 Homo sapiens
476054 Canis lupus familiaris
513558 Bos taurus
361722 Rattus norvegicus
14705 Mus musculus
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