The ptch2 gene encodes a twelve-pass transmembrane receptor protein that antagonizes the Hedgehog signaling pathway by binding to sonic hedgehog ligand. It functions in establishing left-right asymmetr...[+]

The ptch2 gene encodes a twelve-pass transmembrane receptor protein that antagonizes the Hedgehog signaling pathway by binding to sonic hedgehog ligand. It functions in establishing left-right asymmetry during early embryogenesis and is involved in neural tube patterning, including dorsal-ventral specification of the spinal cord. Expression is documented in the brain, eye, spinal cord, otic vesicle, and pronephros. The protein localizes to the cell membrane and endocytic vesicles. [-]

             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

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