| Gene Summary |
MAT1A 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.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. |