Hedgehog signaling (Homo sapiens)
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Description
In the absence of the Hh ligand, the receptor PTCH (Patched) acts to prevent high expression and activity of SMO (Smoothened). When Hh is bound, the repression of SMO is relieved which leads to activation of the GLI transcription factors: activators Gli1 and Gli2 and repressor Gli3. Activated GLI then controls the transcription of hedgehog target genes.
Pathway adapted from [KEGG](http://www.genome.jp/kegg-bin/show_pathway?hsa04340).
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Ontology Terms
Saving...Pathway Ontology : disease pathway
Disease : congenital heart disease oculocerebrorenal syndrome male infertility juvenile myoclonic epilepsy Senior-Loken syndrome Pallister-Hall syndrome Bardet-Biedl syndrome sensorineural hearing loss Carpenter syndrome hydrolethalus syndrome cone-rod dystrophy asphyxiating thoracic dystrophy holoprosencephaly nephronophthisis orofaciodigital syndrome infertility ciliopathy retinitis pigmentosa Leber congenital amaurosis Greig cephalopolysyndactyly syndrome primary ciliary dyskinesia Meckel syndrome Ellis-Van Creveld syndrome medulloblastoma lethal congenital contracture syndrome Birt-Hogg-Dube syndrome polycystic kidney disease Joubert syndrome
Bibliography
- Raducu M, Fung E, Serres S, Infante P, Barberis A, Fischer R, Bristow C, Thézénas ML, Finta C, Christianson JC, Buffa FM, Kessler BM, Sibson NR, Di Marcotullio L, Toftgård R, D'Angiolella V; ''SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development.''; EMBO J, 2016 PubMed Europe PMC Scholia
- ''Hedgehog signaling pathway''; http://www.genome.jp/kegg-bin/show_pathway?hsa04340,
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Annotated Interactions
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