Gene Symbol | DHH |
Entrez Gene ID | 50846 |
Full Name | desert hedgehog |
Synonyms | GDXYM,HHG-3,SRXY7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3) |