Recombinant Human Desert hedgehog protein(DHH),partial (Active)

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Code CSB-AP000411HU
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Product Details

Purity >96% as determined by SDS-PAGE and HPLC.
Endotoxin Less than 1.0 EU/μg as determined by LAL method.
Activity Fully biologically active when compared to standard. The ED50 as determined by its ability to induce alkaline phosphatase production by C3H10T1/2(CCL-226) cells is 15-45 μg/ml.
Target Names DHH
Uniprot No. O43323
Research Area Stem Cells?
Alternative Names C78960; Desert hedgehog (Drosophila) homolog; Desert hedgehog; Desert hedgehog homolog (Drosophila); Desert hedgehog protein C-product; Desert hedgehog protein precursor; DHH; DHH_HUMAN; GDXYM; HHG-3; Hira; SRXY7
Species Homo sapiens (Human)
Source E.coli
Expression Region 24-198aa
Mol. Weight 19.9 kDa
Protein Length Partial
Tag Info Tag-Free
Form Lyophilized powder
Buffer Lyophilized from a 0.2 μm filtered 10mM PB, pH 6.0, 300mM NaCl
Reconstitution 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time 5-10 business days
Notes 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.

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Target Background

(From Uniprot)
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.
Gene References into Functions
  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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Involvement in disease Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7)
Subcellular Location Desert hedgehog protein N-product: Cell membrane, Lipid-anchor, Extracellular side, Note=The N-terminal peptide remains associated with the cell surface, SUBCELLULAR LOCATION: Desert hedgehog protein C-product: Secreted, extracellular space
Protein Families Hedgehog family
Database Links

HGNC: 2865

OMIM: 233420

KEGG: hsa:50846

STRING: 9606.ENSP00000266991

UniGene: Hs.524382


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