Patched homolog 1 (PTCH1)

PTCH1 is a transmembrane receptor protein and a key component of the Hedgehog (Hh) signaling pathway. It acts as the primary receptor for three ligands: Sonic Hedgehog (SHH), Indian Hedgehog (IHH), and Desert Hedgehog (DHH). In the absence of Hh ligands, PTCH1 suppresses the activity of another membrane protein called Smoothened (SMO), thereby inhibiting downstream signaling and cell proliferation. When an Hh ligand binds to PTCH1, this suppression is relieved; SMO becomes active, leading to activation of GLI transcription factors and gene expression that promotes cell growth and differentiation. Mutations or loss-of-function variants in PTCH1 are linked to several disorders, including Gorlin Syndrome and certain cancers.

Other names

Patched-1Protein patched homolog 1

Relieves inhibition of Smoothened (SMO) upon binding to Hedgehog ligands, activating the Hedgehog signaling pathway.