MTAP
Chr 9ADmethylthioadenosine phosphorylase
Also known as: BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene — mechanism propensity
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTAP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Phase Ia/Ib Clinical Study of GH56 Capsules in Subjects With MTAP-Deleted Advanced Solid Tumors
RECRUITINGStudy of GS-5319 in Adults With Solid Tumors
RECRUITINGPhase 1 Study of MRTX1719 in Solid Tumors With MTAP Deletion
RECRUITINGSafety and Efficacy of BMS-986504 in Unresectable Malignant Peripheral Nerve Sheath Tumor
NOT YET RECRUITINGBMS-986504 in Combination With Pemetrexed for the Treatment of Metastatic Solid Tumors With MTAP Deletion
NOT YET RECRUITINGthe Exploration of MTAP Deletion in Osteosarcoma by Immunohistochemistry
ACTIVE NOT RECRUITINGPemetrexed Response in Relation to Tumor Alterations of Gene Status for the Treatment of Patients With Metastatic Urothelial Bladder Cancer and Other Solid Tumors
RECRUITINGExternal Resources
Links to major genomics databases and tools