检测编号：NS0180037

基因 MTRR 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。

MTRR编码甲硫氨酸合成酶还原酶，在甲硫氨酸合成酶的作用过程中发挥作用，已发现20多种突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	5p15.31	15	约3298 bp
基因摘要	This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015].