Target intelligence / Profile preview

Patched homolog protein 1 (PTCH1)

Target
PTCH1
Molecular classification
Receptor, Transmembrane receptor
01

Overview

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.

Other names
PTCHhPTCHpatched 1NBCCS
02

Mechanism of action

PTCH1 inhibits SMO activity in the absence of Hedgehog ligand. Binding of Hedgehog ligands to PTCH1 relieves this inhibition, activating SMO and downstream signaling.

03

Biological functions

Tumor suppressionRegulation of developmentTissue patterningCell growthCell specializationMaintenance of adult tissue homeostasisHedgehog signaling
04

Disease associations

Gorlin syndrome / Nevoid basal cell carcinoma syndromeEsophageal squamous cell carcinomaTrichoepitheliomasTransitional cell carcinomas of the bladderHoloprosencephalyMedulloblastomaCancer
05

Safety considerations

Mutations or deletions can lead to uncontrolled cell proliferation and tumor development.

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