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QuickView for MTHFR (gene)

Gene Symbol:
MTHFR Homo sapiens Homo sapiens
Full name:
methylenetetrahydrofolate reductase
methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)
Genomic Location:
Chr 1: 11768374-11788702
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene...
Mus musculus Rattus norvegicus D. melanogaster C. elegans Saccharomyces cerevisiae Macaca mulatta Schizosaccharomyces pombe Gallus gallus Pan troglodytes Canis lupus familiaris Bos taurus Danio rerio
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 1

GO Molecular Function

NADP binding | cofactor binding | modified amino acid binding | methylenetetrahydrofolate reductase (NAD(P)H) activity | oxidoreductase activity, acting on the CH-NH group of donors | protein-containing complex binding | nucleotide binding | flavin adenine dinucleotide binding | coenzyme binding | catalytic activity | anion binding | ion binding | organic cyclic compound binding | FAD binding | heterocyclic compound binding | oxidoreductase activity | small molecule binding

GO Biological Process

response to extracellular stimulus | response to vitamin B2 | response to nutrient levels | response to cytokine | response to interleukin-1 | sulfur compound metabolic process | morphogenesis of an epithelium | nervous system development | response to drug | regulation of organelle organization | tetrahydrofolate metabolic process | methylenetetrahydrofolate reductase (NAD(P)H) activity | response to folic acid | cellular process | oxidoreductase activity, acting on the CH-NH group of donors | epithelial tube morphogenesis | dicarboxylic acid metabolic process | chromatin organization | regulation of histone modification | response to hypoxia | sulfur amino acid biosynthetic process | tissue development | S-adenosylmethionine metabolic process | cellular amino acid metabolic process | regulation of cellular process | regulation of metabolic process | one-carbon metabolic process | organic cyclic compound metabolic process | epithelium development | cellular aromatic compound metabolic process | cellular component organization | folic acid-containing compound metabolic process | regulation of histone methylation | response to stimulus | embryonic epithelial tube formation | response to stress | cellular amino acid biosynthetic process | tube morphogenesis | chromatin maintenance | epithelial tube formation | cellular nitrogen compound metabolic process | blood circulation | cofactor metabolic process | cellular biosynthetic process | pteridine-containing compound metabolic process | embryo development | response to nitrogen compound | sulfur amino acid metabolic process | heterochromatin organization | system development | response to oxygen levels | nitrogen compound metabolic process | multicellular organism development | response to amino acid | neural tube closure | regulation of nitrogen compound metabolic process | small molecule metabolic process | methionine metabolic process | neural tube formation | cellular amide metabolic process | response to nutrient | biosynthetic process | neural tube development | regulation of cellular protein metabolic process | folic acid metabolic process | chordate embryonic development | regulation of cellular metabolic process | regulation of protein metabolic process | embryo development ending in birth or egg hatching | embryonic morphogenesis | drug metabolic process | carboxylic acid metabolic process | heterochromatin maintenance | response to organic substance | tissue morphogenesis | vitamin metabolic process | anatomical structure development | methionine biosynthetic process | cellular component maintenance | metabolic process | oxidation-reduction process | morphogenesis of embryonic epithelium | organic substance metabolic process | response to vitamin | tetrahydrofolate interconversion | regulation of chromosome organization | anatomical structure formation involved in morphogenesis | homocysteine metabolic process | response to organic cyclic compound | organic acid metabolic process | anatomical structure morphogenesis | developmental process | organelle organization | tube development | response to organonitrogen compound | tube closure | cellular modified amino acid metabolic process | heterocycle metabolic process | tube formation | chromosome organization | cellular metabolic process | oxidoreductase activity | regulation of cellular component organization | multicellular organismal process | regulation of chromatin organization

GO Cellular Component

synapse | cell | cytoplasm | cytosol | intracellular