- DHH (hedgehog)
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desert hedgehog homolog (Drosophila) 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 homolog (Drosophila), also known as DHH is a human gene.[1][2] The protein encoded by this gene is involved in cell signaling. It is named for the Desert Hedgehog.
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.[3]
References
- ^ 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.
- ^ 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.
- ^ "Entrez Gene: desert hedgehog homolog (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50846.
External links
Signaling pathway: hedgehog signaling pathway Ligands Receptor Transcription factor Other This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Categories:- Genes on chromosome 12
- Chromosome 12 gene stubs
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