检测编号：NS0480123

基因 MAT1A 与疾病

MAT1A基因编码甲硫氨酸腺苷基转移酶，该酶有α和β两种亚型，存在与肝脏中。该酶参与蛋氨酸的代谢，将蛋氨酸分解为腺苷甲硫氨酸。蛋氨酸参与转甲基作用，对于许多细胞活动具有重要作用约有15种突变会导致高甲硫氨酸血症，大多基因突变使得构成该酶的氨基酸发生替换，导致蛋氨酸代谢效率降低；还有一些突变使得该基因未完全表达，产生无活性的酶。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MAT1A	methionine adenosyltransferase I, alpha	10q22	9	约3404 bp
基因摘要	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].