PTCH1

Protein patched homolog 1 is a is_associated_with::protein that is the member of the is_associated_with::Patched family and in humans is encoded by the PTCH1 is_associated_with::gene.

Function
PTCH1 is a member of the is_associated_with::patched gene family and is the receptor for is_associated_with::sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a is_associated_with::tumor suppressor. The PTCH1 gene product, is a is_associated_with::transmembrane protein that suppresses the release of another protein called is_associated_with::smoothened, and when sonic hedgheog binds PTCH1, smoothened is released and signals cell proliferation.

Clinical significance
Mutations of this gene have been associated with is_associated_with::nevoid basal cell carcinoma syndrome, esophageal is_associated_with::squamous cell carcinoma, is_associated_with::trichoepitheliomas, is_associated_with::transitional cell carcinomas of the bladder, as well as is_associated_with::holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.

Mutations in PTCH1 cause Gorlin syndrome often with a midline cleft lip and mutations have also been found in is_associated_with::holoprosencephaly patients. Some of these patients present is_associated_with::cleft lip and palate among the is_associated_with::holoprosencephaly features, and missense variants in PTCH1 were also found in a sequencing screening of nonsyndromic is_associated_with::cleft lip and palate patients. In addition association between SNPs in or near PTCH1 have been found to be associated with nonsyndromic is_associated_with::cleft lip and palate. Mutations in PTCH1 are also associated with is_associated_with::medulloblastoma.