Recombinant Human Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)

in vitro E.coli expression system

中文名稱：

人NSDHL重組蛋白
貨號：

CSB-CF618994HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

NSDHL
Uniprot No.：

Q15738
別名：

NSDHL; H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Protein H105e3
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-373
氨基酸序列

MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME RTVQSFRHLRRVK
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

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.
基因功能參考文獻：
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
顯示更多

收起更多
相關疾病：

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD); CK syndrome (CKS)
亞細胞定位：

Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet.
蛋白家族：

3-beta-HSD family
組織特異性：

Brain, heart, liver, lung, kidney, skin and placenta.
數據庫鏈接：

HGNC: 13398

OMIM: 300275

KEGG: hsa:50814

STRING: 9606.ENSP00000359297

UniGene: Hs.57698