检测编号：NS0180036

基因 MTR 与疾病

MTHFR, MTR, MTRR, 和 MMADHC 基因的表达产物在高半胱氨酸转化为甲硫氨酸的途径中起到辅助作用，这些基因突变也会导致本病的发生。

MTR编码甲硫氨酸合成酶，需要在甲基钴胺素和甲硫氨酸合成酶还原酶（MTRR编码）共同存在时发挥作用，将高半胱氨酸转化为甲硫氨酸。已发现20多种突变与高半胱氨酸尿有关，大多导致甲硫氨酸合成酶功能丧失。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	1q43	33	约10558 bp
基因摘要	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014].