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NCI: Human PTCH1 wild-type allele is located in the vicinity of 9q22.3 and is approximately 65 kb in length. This allele, which encodes protein patched homolog 1 protein, plays a role in embryonic structure formation and tumor suppression. Mutations of the gene have been associated with several cancers and disease phenotypes, including: nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, and holoprosencephaly.
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