MAT1A Antibody

Background:

MAT1A 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. MAT1A 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 its gene are associated with methionine adenosyltransferase deficiency.This gne encodes methionine adenosyltransferase I (alpha isoform), which catalyzes the formation of S-adenosylmethionine from methionine and ATP. Methionine adenosyltransferase deficiency is caused by recessive and dominant mutations, the latter identified in autosomal dominant persistant hypermethioninemia.