Gene Symbol | MTRR |
Entrez Gene ID | 4552 |
Full Name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
Synonyms | MSR,cblE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |