MAT1A Chromosome 10
Methionine adenosyltransferase 1A
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What This Gene Does
This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Methionine adenosyltransferase family
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000151224
Associated Conditions (4)
Hepatic methionine adenosyltransferase deficiency
Inborn genetic diseases
MAT1A-related disorder
Colon adenocarcinoma
Key Variants
RS116528173
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS118204006
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS1346664920
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Inborn genetic diseases, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS147356286
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Inborn genetic diseases, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS149163315
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS1589480590
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS200462189
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS200574801
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS2492485397
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS2492486444
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS373567910
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
Health Risk
RS376757912
Conflicting classifications of pathogenicity
Hepatic methionine adenosyltransferase deficiency, MAT1A-related disorder, Hepatic methionine adenosyltransferase deficiency
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554840677 | Health Risk | Pathogenic/Likely pathogenic | Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS372852106 | Health Risk | Pathogenic/Likely pathogenic | Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS376993881 | Health Risk | Pathogenic/Likely pathogenic | Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS773267230 | Health Risk | Pathogenic/Likely pathogenic | Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS913435613 | Health Risk | Pathogenic/Likely pathogenic | Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |