PTCH1 : patched 1
Description
The PTCH1 gene encodes a transmembrane protein that acts as a receptor for the Hedgehog (Hh) signaling pathway. This pathway plays a crucial role in embryonic development, tissue regeneration, and maintaining adult tissue homeostasis. PTCH1 functions as a tumor suppressor, inhibiting Hh signaling in the absence of Hh ligands. Upon binding to Hh ligands, PTCH1 releases its inhibition on the downstream signaling cascade, leading to the activation of gene transcription. Mutations in PTCH1 can lead to uncontrolled Hh signaling, contributing to the development of various cancers and developmental disorders.
Associated Diseases
- Medulloblastoma
- Basal cell carcinoma
- Gorlin syndrome
- Nevoid basal cell carcinoma syndrome
- Rhabdomyosarcoma
- Oligodendroglioma
- Medulloblastoma
Did you know?
Mutations in PTCH1 are found in up to 80% of patients with Gorlin syndrome, a rare genetic disorder characterized by multiple basal cell carcinomas, skeletal abnormalities, and other developmental defects.
