Species Human Entrez 50846 | Human Mouse Ensembl ENSG00000139549 | |
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Aliases DHH, GDXYM, HHG-3, SRXY7, C78960, desert hedgehog External IDs MGI: 94891 HomoloGene: 22431 GeneCards: DHH | ||
Desert hedgehog protein is a protein that in humans is encoded by the DHH gene.
Contents
Function
Desert hedgehog protein is 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.
Clinical significance
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.