NP_066382.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
43,577 Da
NCBI Official Full Name
desert hedgehog protein preproprotein
NCBI Official Synonym Full Names
desert hedgehog
NCBI Protein Information
desert hedgehog protein
UniProt Protein Name
Desert hedgehog protein
UniProt Synonym Protein Names
HHG-3
UniProt Synonym Gene Names
UniProt Entry Name
DHH_HUMAN
NCBI Summary for DHH
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 Comments for DHH
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.
Protein type: Secreted, signal peptide; Secreted; Cell development/differentiation
Chromosomal Location of Human Ortholog: 12q13.1
Cellular Component: extracellular space; plasma membrane
Molecular Function: calcium ion binding; patched binding; peptidase activity; protein binding; zinc ion binding
Biological Process: cell-cell signaling; Leydig cell differentiation; male sex determination; proteolysis; regulation of steroid biosynthetic process; response to estradiol stimulus; spermatid development
Disease: 46,xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy; 46,xy Sex Reversal 7
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Products associated with DHH elisa kit
Pathways associated with DHH elisa kit
Diseases associated with DHH elisa kit
Disease Name |
Pubmed Publications |
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related Antibodies |
>375520 publications with DHH and 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related |
Congenital Abnormalities Antibodies |
>32 publications with DHH and Congenital Abnormalities |
Disorders of Sex Development Antibodies |
>23 publications with DHH and Disorders of Sex Development |
Urogenital Abnormalities Antibodies |
>22 publications with DHH and Urogenital Abnormalities |
Disease Models, Animal Antibodies |
>11 publications with DHH and Disease Models, Animal |
Breast Neoplasms Antibodies |
>9 publications with DHH and Breast Neoplasms |
Abnormalities, Multiple Antibodies |
>7 publications with DHH and Abnormalities, Multiple |
Neoplasm Metastasis Antibodies |
>6 publications with DHH and Neoplasm Metastasis |
Nervous System Malformations Antibodies |
>5 publications with DHH and Nervous System Malformations |
Prostatic Diseases Antibodies |
>5 publications with DHH and Prostatic Diseases |
Organs/Tissues associated with DHH elisa kit
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