NSDHL Antibody
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中文名稱：NSDHL兔多克隆抗體
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貨號：CSB-PA016101GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：NSDHL
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別名：NSDHL; H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Protein H105e3
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human NSDHL
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：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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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：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.
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基因功能參考文獻：
- 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
- Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare. PMID: 26014843
- A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. PMID: 25900314
- 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
- found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS PMID: 21129721
- The missense mutation of the NSDHL gene is detected in CHILD syndrome. PMID: 19906044
- Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl. PMID: 19880419
- NAD(P)H steroid dehydrogenase-like protein is localized to lipid droplets PMID: 12837764
- 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
- microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts PMID: 15805545
- A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic verruciform xanthomas. PMID: 16230564
- NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944
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相關疾病：Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD); CK syndrome (CKS)
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亞細胞定位：Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet.
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蛋白家族：3-beta-HSD family
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組織特異性：Brain, heart, liver, lung, kidney, skin and placenta.
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數據庫鏈接：
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