NAD(P) Dependent Steroid Dehydrogenase-Like (NSDHL) ELISA Kits

The protein encoded by NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Zusätzlich bieten wir Ihnen NAD(P) Dependent Steroid Dehydrogenase-Like Antikörper (29) und NAD(P) Dependent Steroid Dehydrogenase-Like Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
NSDHL 50814 Q15738
NSDHL 18194 Q9R1J0
NSDHL 309262 Q5PPL3
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Katalog Nr. Reaktivität Sensitivität Bereich Bilder Menge Anbieter Lieferzeit Preis Details
Human
  96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$875.60
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Ratte
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Weitere ELISA Kits für NAD(P) Dependent Steroid Dehydrogenase-Like Interaktionspartner

Human NAD(P) Dependent Steroid Dehydrogenase-Like (NSDHL) Interaktionspartner

  1. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene.

  2. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare.

  3. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

  4. human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.

  5. found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS

  6. The missense mutation of the NSDHL gene is detected in CHILD syndrome.

  7. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.

  8. NAD(P)H (zeige NQO1 ELISA Kits) steroid dehydrogenase-like protein (zeige HSDL1 ELISA Kits) is localized to lipid droplets

  9. NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

  10. microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts

Mouse (Murine) NAD(P) Dependent Steroid Dehydrogenase-Like (NSDHL) Interaktionspartner

  1. The role of NSDHL and cholesterol in postnatal central nervous system development is shown.

  2. A novel SNP in Nsdhl suggests that Nsdhl is the causal gene for the HDL (zeige HSD11B1 ELISA Kits) level QTL.

  3. This work identifies a critical role for SC4MOL (zeige MSMO1 ELISA Kits) and NSDHL in the regulation of EGFR (zeige EGFR ELISA Kits) signaling and endocytic trafficking and suggests novel strategies to increase the potency of EGFR (zeige EGFR ELISA Kits) antagonists in tumors

  4. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.

  5. While NSDHL-deficient cells in the mosaic Bpa (zeige DST ELISA Kits)(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal.

  6. implicate the hedgehog (zeige SHH ELISA Kits) signaling pathway in the pathogenesis of the placental defects in NSDHL deficiency

NAD(P) Dependent Steroid Dehydrogenase-Like (NSDHL) Antigen-Profil

Beschreibung des Gens

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene.

Genbezeichner und Symbole assoziert mit NSDHL

  • NAD(P) dependent steroid dehydrogenase-like (NSDHL) Antikörper
  • NAD(P) dependent steroid dehydrogenase-like (nsdhl) Antikörper
  • NAD(P) dependent steroid dehydrogenase-like L homeolog (nsdhl.L) Antikörper
  • NAD(P) dependent steroid dehydrogenase-like (Nsdhl) Antikörper
  • AI747449 Antikörper
  • Bpa Antikörper
  • H105E3 Antikörper
  • SDR31E1 Antikörper
  • Str Antikörper
  • XAP104 Antikörper
  • zgc:112474 Antikörper

Bezeichner auf Proteinebene für NSDHL

sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating , protein H105e3 , short chain dehydrogenase/reductase family 31E, member 1 , bare patches , striated

GENE ID SPEZIES
100063648 Equus caballus
550369 Danio rerio
496236 Xenopus laevis
422302 Gallus gallus
50814 Homo sapiens
481079 Canis lupus familiaris
100157894 Sus scrofa
616694 Bos taurus
18194 Mus musculus
309262 Rattus norvegicus
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