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MAT1A

From SNPedia

is agene
is mentioned by
Full namemethionine adenosyltransferase I, alpha
EntrezGene4143
PheGenI4143
VariationViewer4143
ClinVarMAT1A
GeneCardsMAT1A
dbSNP4143
SADR4143
HugeNav4143
wikipediaMAT1A
googleMAT1A
gopubmedMAT1A
EVSMAT1A
HEFalMpMAT1A
MyGene2MAT1A
23andMeMAT1A
UniProtQ00266
EnsemblENSG00000151224
OMIM610550
# SNPs9
 Max MagnitudeChromosome positionSummary
rs118204001080,274,639
rs118204002080,285,517
rs118204003080,274,535
rs118204004080,275,054
rs118204005080,275,178
rs118204006080,274,599
rs223656880,276,167
rs299376380,273,838
rs72558181080,275,177

Entrez Gene summary for MAT1A Gene [1]:

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)

GeneCards Summary for MAT1A Gene [2]:

MAT1A (methionine adenosyltransferase I, alpha) is a protein-coding gene. Diseases associated with MAT1A include isolated persistent hypermethioninemia, and superior mesenteric artery syndrome. GO annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.

UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266 Function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP