Desert hedgehog (protein)

DHH
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDHH, GDXYM, HHG-3, SRXY7, C78960, desert hedgehog
External IDsMGI: 94891 HomoloGene: 22431 GeneCards: DHH
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q13.12Start49,089,421 bp[1]
End49,094,819 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 15: 98.89 – 98.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
desert hedgehog
Identifiers
Symbol DHH
Alt. symbols HHG-3, MGC35145
Entrez 50846
HUGO 2865
OMIM 605423
RefSeq NM_021044
UniProt O43323
Other data
Locus Chr. 12 q13.1

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. 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]

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139549 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023000 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Kamisago M, Kimura M, Furutani Y, Furutani M, Takao A, Momma K, Matsuoka R (1999). "Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization". Cytogenet. Cell Genet. 87 (1–2): 117–8. doi:10.1159/000015376. PMID 10640830.
  6. ↑ Tate G, Satoh H, Endo Y, Mitsuya T (2000). "Assignment of desert hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization". Cytogenet. Cell Genet. 88 (1–2): 93–4. doi:10.1159/000015495. PMID 10773676.
  7. 1 2 "Entrez Gene: desert hedgehog homolog (Drosophila)".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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