MTHFR Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Belongs to the methylenetetrahydrofolate reductase family. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Cofactor and Vitamin Metabolism - one carbon pool by folate; EC; Energy Metabolism - methane; Oxidoreductase
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component:  cytosol; synapse
Molecular Function:  flavin adenine dinucleotide binding; methylenetetrahydrofolate reductase (NAD(P)H) activity; modified amino acid binding; NADP binding; protein-containing complex binding
Biological Process:  blood circulation; cellular amino acid metabolic process; folic acid metabolic process; heterochromatin maintenance; homocysteine metabolic process; methionine metabolic process; neural tube closure; oxidation-reduction process; regulation of histone methylation; response to amino acid; response to folic acid; response to hypoxia; response to interleukin-1; response to vitamin B2; S-adenosylmethionine metabolic process; tetrahydrofolate interconversion
Disease: Homocystinuria Due To Deficiency Of N(5,10)-methylenetetrahydrofolate Reductase Activity; Neural Tube Defects, Folate-sensitive; Schizophrenia; Thrombophilia Due To Thrombin Defect
Reference #:  P42898 (UniProtKB)
Alt. Names/Synonyms: 5,10-methylenetetrahydrofolate reductase; 5,10-methylenetetrahydrofolate reductase (NADPH); Methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase (NAD(P)H); MTHFR; MTHR
Gene Symbols: MTHFR
Molecular weight: 74,597 Da
Basal Isoelectric point: 5.22  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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