Role in Disease
Mutated patched proteins have been implicated in a number of cancers including Basal Cell Carcinoma, Medulloblastoma, and Rhabdomyosarcoma. Hereditary mutations in the human patched homolog PTCH1 cause autosomal dominant Gorlin syndrome, which consists of overgrowth and hereditary disposition to cancer including basal cell carcinoma and medulloblastoma. Mice with mutations in mouse PTCH1 develop medulloblastoma.
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