PTCHs and cancer
PTCH1 is a tumor suppressor gene that encodes a cell-membrane protein (PATCHED), which functions as a receptor for a family of proteins called Hedgehog.
The Hedgehog/PATCHED pathway regulates several genes, including TGF-? and PDGF-R.
Mutations in PTCH1 are responsible for Gorlin syndrome, an inherited condition also known as nevoid basal cell carcinoma syndrome.
PTCH1 mutations are present in 20% to 50% of sporadic cases of basal cell carcinoma. About one half of such mutations are of the type caused by UV exposure.
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