Entity Details

Primary name MAT1A
Entity type gene
Source Source Link

Details

PrimaryID4143
RefseqGeneNG_008083
SymbolMAT1A
Namemethionine adenosyltransferase 1A
Chromosome10
Location10q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMETK1_HUMAN

GO terms

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GOName
GO:0000096 sulfur amino acid metabolic process
GO:0001887 selenium compound metabolic process
GO:0004478 methionine adenosyltransferase activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0006556 S-adenosylmethionine biosynthetic process
GO:0006730 one-carbon metabolic process
GO:0009087 methionine catabolic process
GO:0032259 methylation
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051289 protein homotetramerization

Diseases

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Disease IDSourceNameDescription
250850 OMIMMethionine adenosyltransferase deficiency (MATD)An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. The disease is caused by variants affecting the gene represented in this entry.