MAT2A Chromosome 2
Methionine adenosyltransferase 2A
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What This Gene Does
The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
Methionine adenosyltransferase family
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000168906
Associated Conditions (2)
Familial thoracic aortic aneurysm and aortic dissection
Cardiovascular phenotype
Key Variants
RS747379918
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS771488542
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
Health Risk
RS886039820
Pathogenic
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747379918 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS771488542 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype |
| RS886039820 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |