MTAP Chromosome 9
Methylthioadenosine phosphorylase
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What This Gene Does
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 (1)
Diaphyseal medullary stenosis-bone malignancy syndrome
Key Variants
RS373274501
Conflicting classifications of pathogenicity
Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
Health Risk
RS2131048008
Pathogenic
Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
Health Risk
RS2131048129
Pathogenic
Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373274501 | Health Risk | Conflicting classifications of pathogenicity | Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome |
| RS2131048008 | Health Risk | Pathogenic | Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome |
| RS2131048129 | Health Risk | Pathogenic | Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome |