Recombinant Human DHH Protein
Beta LifeScience
SKU/CAT #: BL-1636SG
Recombinant Human DHH Protein
Beta LifeScience
SKU/CAT #: BL-1636SG
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
Tag | N/A |
Host Species | Human |
Accession | O43323 |
Synonym | Desert Hedgehog Protein, DHHRecombinant Human Desert Hedgehog (DHH) |
Background | The Desert Hedgehog protein is one of the three Hedgehog family proteins that is highly conserved and plays a role in many developmental processes in animals. DHH become biologically active following its autocatalytic cleavage. There is a high degree of residue homology between Sonic Hedgehog (SHH), Indian Hedgehog (IHH), and DHH. Despite their individual levels of expression and unique biological roles, the Hedgehog family members all use the same signalling pathway, and therefore, may be used interchangeably for some experimental purposes. |
Description | Recombinant Human DHH was produced in E. coli. This protein is purified with our unique purification methods. |
Source | E.coli |
Molecular Weight | 20.0 kDa |
Purity | For specific purity information on a given lot, see related COA. |
Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method |
Formulation | Recombinant protein is supplied in 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM Glutathione, 0.25mM DTT, 0.1mM EDTA, 0.1mM PMSF and 25% glycerol. |
Stability | The recombinant protein is stable for up to 12 months at -70°C |
Usage | For Research Use Only |
Storage | Recombinant Human DHH Protein should be stored should be stored at < -70°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles. |
Target Details
Target Function | 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. |
Subcellular Location | [Desert hedgehog protein N-product]: Cell membrane; Lipid-anchor; Extracellular side.; [Desert hedgehog protein C-product]: Secreted, extracellular space. |
Protein Families | Hedgehog family |
Database References | |
Associated Diseases | Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7) |
Gene Functions References
- 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
- Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder. PMID: 25517604
- 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
- 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
- Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis. PMID: 23786321
- This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development. PMID: 22514309
- 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
- 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
- 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
- These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves PMID: 11990454
- Importance of DHH in mammalian male sexual differentiation, providing extended evidence that DHH constitutes a key gene in gonadal differentiation PMID: 16390857
- its signal transduction regulates tumor development. (review) PMID: 18788453
- Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target PMID: 19074837