This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.
Pathway
Basal cell carcinoma; Class B/2 (Secretin family receptors); GPCR ligand binding; Hedgehog Signaling Pathway; Pathways in cancer; Signal Transduction; Signaling by GPCR; Signaling events mediated by the Hedgehog family;
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