MTAP methylthioadenosine phosphorylase
Gene ID: 4507, updated on 3-Nov-2024Gene type: protein coding
Also known as: BDMF; MSAP; DMSFH; LGMBF; DMSMFH; c86fus; HEL-249
- See all available tests in GTR for this gene
- Go to complete Gene record for MTAP
- Go to Variation Viewer for MTAP variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. GeneReviews: Not available | |
| Diaphyseal medullary stenosis-bone malignancy syndrome | See labs |
| Genome-wide association study identifies three loci associated with melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-10-12) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-10-12) ClinGen Genome Curation Page |
Genomic context
- Location:
- 9p21.3
- Sequence:
- Chromosome: 9; NC_000009.12 (21802636..21941115)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MTAP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MTAP @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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