Desert hedgehog (protein)

DHH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WFQ, 2WFR, 2WG3, 3N1G, 3N1Q
Identifiers
Aliases	DHH, GDXYM, HHG-3, SRXY7, C78960, desert hedgehog, desert hedgehog signaling molecule, GDMN
External IDs	OMIM: 605423; MGI: 94891; HomoloGene: 22431; GeneCards: DHH; OMA:DHH - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.12 Start 49,086,656 bp[1] End 49,094,801 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 F1|15 55.05 cM Start 98,789,033 bp[2] End 98,796,421 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve sural nerve smooth muscle tissue spinal ganglia left coronary artery appendix right coronary artery gallbladder right lung ventricle Top expressed in sciatic nerve Sertoli cell external carotid artery internal carotid artery utricle pulmonary artery cumulus cell entorhinal cortex semi-lunar valve ascending aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding zinc ion binding metal ion binding patched binding peptidase activity protein binding hydrolase activity Cellular component membrane plasma membrane extracellular region extracellular space Biological process response to estradiol Leydig cell differentiation cell-cell signaling regulation of steroid biosynthetic process male sex determination proteolysis response to estrogen multicellular organism development spermatid development myelination osteoblast differentiation smoothened signaling pathway cell fate specification regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50846 13363 Ensembl ENSG00000139549 ENSMUSG00000023000 UniProt O43323 Q61488 RefSeq (mRNA) NM_021044 NM_007857 RefSeq (protein) NP_066382 NP_031883 Location (UCSC) Chr 12: 49.09 – 49.09 Mb Chr 15: 98.79 – 98.8 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Desert hedgehog, also Desert hedgehog homolog or Dhh, is a protein encoded by the DHH gene, and is a member of the hedgehog signaling pathway. The human homolog (DHH) is on chromosome band 12q13.1.^[5][6] The protein encoded by this gene is involved in cell signaling. The several mammalian variants of the Drosophila hedgehog gene (which was the first named) have been named after the various species of hedgehog; the desert hedgehog is honored by this one. The gene is not specific to desert hedgehogs.

Function

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.

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.^[7]

References

External links

• DHH protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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This page was last edited on 30 December 2023, at 16:38