PTCHs
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Function
In the responding cell, active Hedgehog binds to its receptor Patched, a 12-pass transmembrane protein, which frees Smoothened, an adjacent 7-pass transmembrane protein, for downstream signaling. Patched and Smoothened may shuttle oppositely between the plasma membrane and endocytic vesicles in response to active Hedgehog ligand.
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.
Members
PTCH1 | PTCH2 |