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  • Human MTAP wild-type allele is located in the vicinity of 9p21 and is approximately 230 kb in length. This allele, which encodes S-methyl-5\'-thioadenosine phosphorylase protein, is involved in the metabolism of both polyamines and purines. Mutation of the gene is associated with diaphyseal medullary stenosis with malignant fibrous histiocytoma.
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