Recombinant Human Desert hedgehog protein (DHH), partial

^{In Stock}

中文名稱：

人DHH重組蛋白
貨號(hào)：

CSB-EP006851HU1
規(guī)格：

￥1536
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

DHH
Uniprot No.：

O43323
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
來源：

E.coli
分子量：

42.6 kDa
表達(dá)區(qū)域：

51-158AA
氨基酸序列

GVPERTLGASGPAEGRVARGSERFRDLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPGVRLRVTEGWDEDGHHAQDSLHYEGRALDITTSDRDRNK
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(biāo)簽：

N-terminal 10xHis-GST-tagged and C-terminal Myc-tagged
產(chǎn)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：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復(fù)溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲(chǔ)存條件：

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

3-7 business days
注意事項(xiàng)：

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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.
基因功能參考文獻(xiàn)：
1. Whole-exome sequencing revealed a homozygous variant in DHH leading to the p.Trp173Cys substitution. The relevant Trp residue is conserved, and its alteration was predicted to be deleterious. Molecular dynamics simulations showed that the mutation increases the conformational flexibility of the protein PMID: 28708305
2. Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder. PMID: 25517604
3. Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. PMID: 25927242
4. Findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML. PMID: 24127550
5. Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis. PMID: 23786321
6. This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development. PMID: 22514309
7. Studies indicate that pathways of Hedgehog (Hh), Wnt and Notch, which regulate development during embryonic life and somatic stem cells (SCs) in the adult organism, can be reactivated in malignancies and support tumor-initiating cells (TIC) scompartment. PMID: 22123293
8. Two cases have been described in Indian patients with 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene leading to non-functional DHH protein. PMID: 21816240
9. We found no significant correlation between the expression of SOX9 and desert hedgehog, and neither SOX9 nor desert hedgehog expression was correlated to the histoprognostic grade in sarcomas. PMID: 21193222
10. These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves PMID: 11990454
11. Importance of DHH in mammalian male sexual differentiation, providing extended evidence that DHH constitutes a key gene in gonadal differentiation PMID: 16390857
12. its signal transduction regulates tumor development. (review) PMID: 18788453
13. Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target PMID: 19074837
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相關(guān)疾病：

Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7)
亞細(xì)胞定位：

[Desert hedgehog protein N-product]: Cell membrane; Lipid-anchor; Extracellular side.; [Desert hedgehog protein C-product]: Secreted, extracellular space.
蛋白家族：

Hedgehog family
數(shù)據(jù)庫(kù)鏈接：

HGNC: 2865

OMIM: 233420

KEGG: hsa:50846

STRING: 9606.ENSP00000266991

UniGene: Hs.524382