Desert hedgehog protein

Desert hedgehog protein
Desert hedgehog

Rendering based on PDB 2WFQ.
Identifiers
Symbols DHH; HHG-3; MGC35145
External IDs OMIM605423 MGI94891 HomoloGene22431 GeneCards: DHH Gene
RNA expression pattern
PBB GE DHH gnf1h08867 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 50846 13363
Ensembl ENSG00000139549 ENSMUSG00000023000
UniProt O43323 Q544P6
RefSeq (mRNA) NM_021044 NM_007857.4
RefSeq (protein) NP_066382 NP_031883.1
Location (UCSC) Chr 12:
49.48 – 49.49 Mb
Chr 15:
98.72 – 98.73 Mb
PubMed search [1] [2]

Desert hedgehog protein is a protein that in humans is encoded by the DHH gene.[1][2][3]

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.[3]

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.[3]

References

  1. ^ Tate G, Satoh H, Endo Y, Mitsuya T (Jun 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. 
  2. ^ Kamisago M, Kimura M, Furutani Y, Furutani M, Takao A, Momma K, Matsuoka R (May 2000). "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. 
  3. ^ a b c "Entrez Gene: DHH desert hedgehog homolog (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50846. 

Further reading

External Links


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