[Patched is the sonic hedgehog receptor, a protein with twelve transmembrane domains that represses transcription of genes encoding TGF Beta and WNT family signaling proteins. Patched is involved in embryonic development and adult cell growth control. Sonic hedgehog binding to Patched appears to activate the 7-transmembrane protein Smoothened by release from Patched inhibition. Basal cell carcinoma is associated with mutations that activate Smoothened or inactivate Patched, causing excess activity of the hedgehog response pathway. The PTCH gene is a cloned gene for Basal Cell Nevus Syndrome, associated with skin cancer and childhood brain cancer. (from OMIM 601309 and NCI) ( NCI )]
UMLS (NCI) C1367881PTCH
- Amino Acid, Peptide, or Protein
- Receptor