Aliases for MTAP Gene
External Ids for MTAP Gene
Previous GeneCards Identifiers for MTAP Gene
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTAP Gene
MTAP (Methylthioadenosine Phosphorylase) is a Protein Coding gene. Diseases associated with MTAP include diaphyseal medullary stenosis with malignant fibrous histiocytoma and diaphyseal medullary stenosis-bone malignancy syndrome. Among its related pathways are Sulfur amino acid metabolism and Metabolism. GO annotations related to this gene include phosphorylase activity and S-methyl-5-thioadenosine phosphorylase activity. An important paralog of this gene is ENSG00000264545.
UniProtKB/Swiss-Prot for MTAP Gene
Catalyzes the reversible phosphorylation of S-methyl-5-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.