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Target intelligence / Profile preview
Patched 1 Protein (PTCH1)
- Target
- PTCH1
- Molecular classification
- Receptor, Transmembrane receptor
01
Overview
Patched 1 protein is a transmembrane receptor and a key component of the Hedgehog (Hh) signaling pathway. It acts as a tumor suppressor by inhibiting Smoothened (SMO) in the absence of Hh ligands. Mutations in PTCH1 are associated with various developmental disorders and cancers.
- Other names
- PTCHPTChPTCH
02
Mechanism of action
Inhibits Smoothened (SMO) in the absence of Hedgehog ligands. Binding of Hedgehog ligands relieves this inhibition, activating downstream signaling.
03
Biological functions
Cell growth regulationCell specializationEmbryonic developmentTumor suppressionNegative regulation of Smoothened
04
Disease associations
Cancer (Gorlin Syndrome/Nevoid Basal Cell Carcinoma Syndrome, Medulloblastoma, Esophageal squamous cell carcinoma, Trichoepitheliomas, Bladder carcinomas)Holoprosencephaly
05
Safety considerations
Uncontrolled cell proliferation if PTCH1 function is lostPotential for developmental defects if Hedgehog pathway is dysregulated during embryogenesis
06
Biomarkers
PTCH1 mutations as diagnostic and prognostic markers in related cancers
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