Human DHH (C23II) His Recombinant Protein (RPPB0909)

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SKU:
RPPB0909
Product type:
Recombinant Protein
Size:
25ug
Species:
Human
Target:
DHH (C23II) His
Synonyms:
HHG-3
Synonyms:
Desert Hedgehog homolog
Synonyms:
MGC35145
Synonyms:
Desert hedgehog protein
Source:
Escherichia Coli
Uniprot:
O43323
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Description

Product Name:Human DHH (C23II) His Recombinant Protein
Product Code:RPPB0909
Size:25µg
Species:Human
Target:DHH (C23II) His
Synonyms:HHG-3, Desert Hedgehog homolog, MGC35145, Desert hedgehog protein, DHH.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The DHH (C23II) His solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 7.5), 0.15M NaCl, 1mM DTT and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMIIGPGR GPVGRRRYAR KQLVPLLYKQ FVPGVPERTL GASGPAEGRV ARGSERFRDL VPNYNPDIIF KDEENSGADR LMTERCKERV NALAIAVMNM WPGVRLRVTE GWDEDGHHAQ DSLHYEGRAL DITTSDRDRN KYGLLARLAV EAGFDWVYYE SRNHVHVSVK ADNSLAVRAG G

DHH is part of the Hedgehog family which encodes signaling molecules that are involved in regulating morphogenesis. DHH protein is a precursor that is autocatalytically cleaved, the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. Additionally, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in DHH protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. DHH plays a role both male gonadal differentiation and perineurial development.DHH plays a role in intercellular signaling which is essential for a variety of patterning events during development. DHH functions as a spermatocyte survival factor in the testes & is essential for testes development.

DHH (C23II) His Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 201 amino acids (23-198) and having a molecular mass of 22.4kDa.DHH (C23II) His is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:DHH: 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. Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD). PGD is characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM); also known as male- limited gonadal dysgenesis 46,XY. GDXYM is a type of hypogonadism in which no functional gonads are present to induce puberty in an externally female person whose karyotype is then found to be XY. The gonads are found to be non-functional streaks. Belongs to the hedgehog family.
UniProt Protein Details:

Protein type:Secreted; Secreted, signal peptide; Cell development/differentiation

Chromosomal Location of Human Ortholog: 12q13.1

Cellular Component: extracellular space; plasma membrane

Molecular Function:peptidase activity; protein binding; zinc ion binding; patched binding; calcium ion binding

Biological Process: myelination; Leydig cell differentiation; cell-cell signaling; male sex determination; regulation of steroid biosynthetic process; proteolysis; spermatid development; response to estradiol stimulus

Disease: 46,xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy; 46,xy Sex Reversal 7

NCBI Summary:This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
UniProt Code:O43323
NCBI GenInfo Identifier:6166118
NCBI Gene ID:50846
NCBI Accession:O43323.1
UniProt Secondary Accession:O43323,Q15794,
UniProt Related Accession:O43323
Molecular Weight:43,577 Da
NCBI Full Name:Desert hedgehog protein
NCBI Synonym Full Names:desert hedgehog
NCBI Official Symbol:DHH  
NCBI Official Synonym Symbols:GDXYM; HHG-3; SRXY7  
NCBI Protein Information:desert hedgehog protein; mutant desert hedgehog; desert hedgehog homolog
UniProt Protein Name:Desert hedgehog protein
UniProt Synonym Protein Names:HHG-3
Protein Family:Desert hedgehog protein
UniProt Gene Name:DHH  
UniProt Entry Name:DHH_HUMAN
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