This gene encodes a protein similar to the mouse hedgehog-interacting protein, a regulatory component of the Hedgehog signaling pathway.
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The cause of the syndrome is a mutation in the PTCH1 tumor-suppressor gene at chromosome 9q22.3, which inhibits the hedgehog signaling pathway.
Among his laboratory's many subsequent discoveries, he is recognized for the cloning of the patched gene family and demonstration that a human homolog PTCH1 is a key tumor suppressor gene for the Hedgehog signaling pathway as well as the causative gene for the nevoid basal cell carcinoma syndrome, or Gorlin syndrome.
In the fruit fly Drosophila melanogaster, segment polarity genes help to define the anterior and posterior polarities within each embryonic parasegment by regulating the transmission of signals via the Wnt signaling pathway and Hedgehog signaling pathway.