The ptch1 gene encodes a twelve-pass transmembrane receptor that functions in the hedgehog signaling pathway as the primary receptor for sonic hedgehog ligand, transducing extracellular signals to intr...[+]

The ptch1 gene encodes a twelve-pass transmembrane receptor that functions in the hedgehog signaling pathway as the primary receptor for sonic hedgehog ligand, transducing extracellular signals to intracellular effectors. This receptor is localized to the primary cilium. It acts as a negative regulator of the pathway by suppressing the activity of smoothened until bound by ligand; upon binding, this repression is relieved, allowing activation of gli transcription factors which regulate gene expression. Expression and functional studies show it is involved in patterning the neural tube, somites, craniofacial structures, and limb buds during embryonic development. [-]

             holoprosencephaly 7
             nevoid basal cell carcinoma syndrome
             basal cell carcinoma
             nevoid basal cell carcinoma syndrome 1

          BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1
          BASAL CELL NEVUS SYNDROME 1; BCNS1
          HOLOPROSENCEPHALY 7; HPE7

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD