Folates play an essential role in one-carbon methyl transfer reactions, mediating several biological processes (e.g. DNA synthesis, epigentics by methylation, embryonic central nervous system development, cata-/anabolism of amino acids, and anabolism of thymidines, purines, and neurotransmitters. The biologically active folic acid derivative is 5,6,7,8-tetrahydrofolate (THF). Dietary folate is absorbed in the intestine, and stored in the liver for few months. [rephrased from chapter 10 of Blau et al, ISBN 3642403360 (978-3642403361)]. For more detail on MTHFR deficiency, please visit [https://www.wikipathways.org/index.php/Pathway:WP4288]. be9 ecd Found based on EC code for MTHFCH, information in UniProt describes this reaction. MTHFCH: methenyl-THF cyclohydrolase Based on Rhea, the side metabolite is not Histidine AKA 7,8-DHF AKA PCFT AKA Folate receptor alpha AKA ATIC, PURH AKA TYMS AKA FTHFD, cytosolic AKA SHMT2; Rhea and UniProt confirm the '2' addition, whereas the Blau book chapter only mentions SHMT. AKA FITHFCH AKA quinoid DHF; SMILES: Nc1-n=C2NCC(CNc3ccc(cc3)C(=O)N[C@@H](CCC(O)=O)C(O)=O)N=c2C(=O)N=1 Reference [PMID:30587505] does not provide info on stereochemistry ecd Reference [PMID:30587505] does not provide info on stereochemistry ecd AKA Folate receptor alpha AKA FTHFD, mitochondrial Found based on EC code for MTHFCH, information in UniProt describes this reaction. Found based on EC code for MTHFCH, information in UniProt describes this reaction. be9 ecd ecd ecd ecd ecd ecd ecd ecd ecd ecd ecd ecd ecd AKA Formyl-THF isomerase, Formyltetrahydrofolate isomerase. There is some evidence suggesting that this protein is active in Yeast: http://bigg.ucsd.edu/universal/reactions/FTHFI ; no human counterpart has been located online 2022/09/29. AKA Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency OMIM ID only links to gene, IEMBase info: ICIMD Nosology Number 21.8.1.01 AKA Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities AKA HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY DIHYDROPTERIDINE REDUCTASE DEFICIENCY DHPR DEFICIENCY QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY QDPR DEFICIENCY, Hyperphenylalaninemia, BH4-deficient, C, HPABH4C AKA Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency OMIM ID only links to gene, IEMBase info: ICIMD Nosology Number 21.8.1.01 AKA Glutamate formiminotransferase deficiency 30587505 PubMed Toward a better understanding of folate metabolism in health and disease J Exp Med . 2019 Yuxiang Zheng Lewis C Cantley 9783642403361 ISBN Disorders of Folate Metabolism and Transport Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic diseases, chapter 10 2014 Fernando Scaglia Nenad Blau folate metabolic pathway PW:0000140 Pathway Ontology methylenetetrahydrofolate reductase deficiency pathway PW:0002343 Pathway Ontology vitamin B12 deficiency DOID:0050731 Disease vitamin metabolic disorder DOID:0050718 Disease megaloblastic anemia DOID:13382 Disease cerebral folate receptor alpha deficiency DOID:0050719 Disease disease pathway PW:0000013 Pathway Ontology glutamate formiminotransferase deficiency DOID:0111679 Disease BH4-deficient hyperphenylalaninemia C DOID:0081130 Disease central nervous system neuron CL:2000029 Cell Type