Aliases for PTCH1 Gene
External Ids for PTCH1 Gene
Previous HGNC Symbols for PTCH1 Gene
Previous GeneCards Identifiers for PTCH1 Gene
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]
GeneCards Summary for PTCH1 Gene
PTCH1 (Patched 1) is a Protein Coding gene. Diseases associated with PTCH1 include basal cell nevus syndrome and holoprosencephaly-7. Among its related pathways are Axon guidance and Basal cell carcinoma. GO annotations related to this gene include protein complex binding and cholesterol binding. An important paralog of this gene is NPC1L1.
UniProtKB/Swiss-Prot for PTCH1 Gene
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehogs proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.