Recombinant Human Desert hedgehog protein (DHH)

Code
MSDS	MSDS Datasheet
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Source
Conjugate
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Target Background

Product Details

Purity

>85% (SDS-PAGE)

Target Names

DHH

Uniprot NO.

O43323

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

Yeast

Expression Region

23-396

Target Protein Sequence

CGPGRGPV GRRRYARKQL VPLLYKQFVP GVPERTLGAS GPAEGRVARG SERFRDLVPN YNPDIIFKDE ENSGADRLMT ERCKERVNAL AIAVMNMWPG VRLRVTEGWD EDGHHAQDSL HYEGRALDIT TSDRDRNKYG LLARLAVEAG FDWVYYESRN HVHVSVKADN SLAVRAGGCF PGNATVRLWS GERKGLRELH RGDWVLAADA SGRVVPTPVL LFLDRDLQRR ASFVAVETEW PPRKLLLTPW HLVFAARGPA PAPGDFAPVF ARRLRAGDSV LAPGGDALRP ARVARVAREE AVGVFAPLTA HGTLLVNDVL ASCYAVLESH QWAHRAFAPL RLLHALGALL PGGAVQPTGM HWYSRLLYRL AEELLG
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.

Protein Length

Full Length of Mature Protein

Tag Info

N-terminal His-tagged/Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Storage Condition

Store at -20°C, for extended storage, conserve at -20°C or -80°C.

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.

Notes

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

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Target Background

Function(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

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

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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 Links

HGNC: 2865

UNIGENE: Hs.524382

KEGG: hsa:50846

STRING: 9606.ENSP00000266991

OMIM: 233420

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