Gene Symbol | MTHFD1 |
Entrez Gene ID | 4522 |
Full Name | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
Synonyms | CIMAH,MTHFC,MTHFD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3); Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) |