The MTAP gene (MTAP stands for: Methylthioadenosine phosphorylase) is a protein-coding gene located on chromosome 9p21.3. Several alternatively spliced transcript variants have been described for this gene. An important paralog of this gene is PNP.
MTAP gene
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General informationThis section has been translated automatically.
The MTAP gene encodes an enzyme that plays an important role in polyamine metabolism and is important for the salvage pathway of adenine and methionine. The encoded enzyme is dysfunctional in many types of cancer. Diseases associated with MTAP include diaphyseal medullary stenosis with malignant fibrous histiocytoma and diaphyseal medullary stenosis-bone malignancy syndrome.
The encoded MTAP enzyme catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Is involved in the degradation of MTA, an important by-product of polyamine biosynthesis. Responsible for the first step in the methionine recovery pathway after MTA is formed from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.