Recombinant Human DDB1- and CUL4-associated factor 17 (DCAF17)

in vitro E.coli expression system

中文名稱：

Recombinant Human DDB1- and CUL4-associated factor 17(DCAF17)
貨號：

CSB-CF705161HU
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：

DCAF17
Uniprot No.：

Q5H9S7
別名：

DCAF17; C2orf37; DDB1- and CUL4-associated factor 17
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-520
氨基酸序列

MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIA YERGRIYFDNYRRCVSSVASEPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSS LIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTPQEVIAVKSAQNRGSAVARQA GIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGH PWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQEMDCCSLESDWIYFHPDASGRIIHVGP NQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKSFNLLDDDPE QETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEV YFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC
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：

May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
基因功能參考文獻：
1. The phenotypic variability of Woodhouse-Sakati syndrome due to c.436delC founder DCAF17 mutation may have a wider range than previously recognized. PMID: 29574468
2. This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis. PMID: 26612766
3. two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported. PMID: 26440089
4. Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. PMID: 24015686
5. The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17. PMID: 23418071
6. Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35 PMID: 21963443
7. Mutations in C2orf37 are responsible for Woodhouse-Sakati syndrome. PMID: 21964978
8. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome PMID: 21044051
9. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients PMID: 20507343
10. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. PMID: 19026396
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相關疾病：

Woodhouse-Sakati syndrome (WoSaS)
亞細胞定位：

Membrane; Multi-pass membrane protein. Nucleus, nucleolus. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.
組織特異性：

Ubiquitously expressed.
數據庫鏈接：

HGNC: 25784

OMIM: 241080

KEGG: hsa:80067

STRING: 9606.ENSP00000364404

UniGene: Hs.659439