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 family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
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 Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is PTCH2.
UniProtKB/Swiss-Prot Summary 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 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.