Product details
Background:
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. [provided by RefSeq , Jul 2008] ,






