indian hedgehog protein; IHH; HHG-2; contains: indian hedgehog protein N-product, indian hedgehog protein C-product (IHH)
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Function
- intercellular signal essential for a variety of patterning events during development
- binds to the patched receptor (PTC), which functions in association with smoothened (SMO), to activate transcription of target genes
- implicated in endochondral ossification
- may regulate the balance between growth & ossification of developing bones
- induces expression of parathyroid hormone-related protein (PTHRP) (putative)
- the C-terminal domain displays an autoproteolysis activity & a cholesterol transferase activity
- both activities result in cleavage of the full-length protein & covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product)
- the N-product is the active species in both local & long-range signaling
- the C-product has no signaling activity (putative)
- cholesterylation is required for N-product targeting to lipid rafts & multimerization (putative)
- palmitoylated; N-palmitoylation is required for N-product multimerization & full activity
Structure
- belongs to the hedgehog family
Compartment
- indian hedgehog protein N-product:
- cell membrane; lipid-anchor; extracellular side (putative)
- N-terminal peptide remains associated with the cell surface (putative)
- indian hedgehog protein C-product:
- secreted, extracellular space (putative)
- the C-terminal peptide diffuses from the cell (putative)
Expression
- expressed in embryonic lung, & in adult kidney & liver
Pathology
- defects in IHH are the cause of brachydactyly type A1
- defects in IHH are a cause of acrocapitofemoral dysplasia
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q14623.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/IHH
- ↑ Marigo V et al Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics 28:44-51 1995 PMID: https://www.ncbi.nlm.nih.gov/pubmed/7590746
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3549
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3549
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3549
- OMIM: https://mirror.omim.org/entry/112500
- OMIM: https://mirror.omim.org/entry/600726
- OMIM: https://mirror.omim.org/entry/607778
- UniProt: http://www.uniprot.org/uniprot/Q14623.html