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Patched homolog protein 1 (PTCH1) is a transmembrane receptor that plays a central role in the Hedgehog (Hh) signaling pathway, which is crucial for embryonic development, tissue homeostasis, and tumor suppression. In the absence of Hh ligands, PTCH1 suppresses the activity of Smoothened (SMO). When an Hh ligand binds to PTCH1, SMO becomes active, leading to activation of GLI transcription factors and expression of target genes that drive cell growth and differentiation. PTCH1 functions as a tumor suppressor gene, and mutations can lead to Gorlin syndrome and other cancers.
PTCH1 inhibits SMO activity in the absence of Hedgehog ligand. Binding of Hedgehog ligands to PTCH1 relieves this inhibition, activating SMO and downstream signaling.
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