This gene encodes a member of the patched gene family. The encoded protein is the receptor for
sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in
tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as
a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome,
esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the
bladder, as well as 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
Hedgehog signaling pathway
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HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY PTCH1(RC216999) (RC216999, Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-PTCH1.