Literature associating PTCH1 and holoprosencephaly 7
Protein patched homolog 1; Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis; Belongs to the patched family.
Synonyms: PTCH1, PTCH1p, hPTCH1, A3KBF6, F8VPA3 ...