NSDHL Antibody, HRP conjugated

Code CSB-PA618994LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NSDHL Polyclonal antibody
Uniprot No.
Target Names
NSDHL
Alternative Names
NSDHL; H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Protein H105e3
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating protein (154-211AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
HRP
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis. Plays also a role in the regulation of the endocytic trafficking of EGFR.
Gene References into Functions
  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. PMID: 26459993
  2. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare. PMID: 26014843
  3. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. PMID: 25900314
  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. PMID: 22113624
  5. found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS PMID: 21129721
  6. The missense mutation of the NSDHL gene is detected in CHILD syndrome. PMID: 19906044
  7. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl. PMID: 19880419
  8. NAD(P)H steroid dehydrogenase-like protein is localized to lipid droplets PMID: 12837764
  9. NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. PMID: 14506130
  10. microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts PMID: 15805545
  11. A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic verruciform xanthomas. PMID: 16230564
  12. NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944

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Involvement in disease
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD); CK syndrome (CKS)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet.
Protein Families
3-beta-HSD family
Tissue Specificity
Brain, heart, liver, lung, kidney, skin and placenta.
Database Links

HGNC: 13398

OMIM: 300275

KEGG: hsa:50814

STRING: 9606.ENSP00000359297

UniGene: Hs.57698

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