Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol MTAP
Synonyms BDMF | c86fus | DMSFH | DMSMFH | HEL-249 | LGMBF | MSAP
Gene Description MTAP, methylthioadenosine phosphorylase, encodes an enzyme that plays a role in the methionine salvage pathway via catalyzing methylthioadenosine (MTA), a product of polyamine biosynthesis, and results in salvaging adenine and methionine (PMID: 26751376, PMID: 24324622). Loss of MTAP frequently occurs in a variety of tumors, which may result in an accumulation of MTA, leading to deregulation of cellular pathways (PMID: 27068473, PMID: 26819315).


Additional content available in CKB BOOST