Disorders of folate metabolism and transport (WP4259)

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].
last edited


Jessev1993, Egonw, Andra, DeSl, Khanspers, IreneHemel, Josienlandman, Fehrhart, Eweitz, and Finterly

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Homo sapiens


Diseases Inborn Errors of Metabolism (IEM) Pathways Rare Diseases


Disease Ontology: vitamin B12 deficiency vitamin metabolic disorder cerebral folate receptor alpha deficiency

Cell Type Ontology: central nervous system neuron

Pathway Ontology: methylenetetrahydrofolate reductase deficiency pathway folate metabolic pathway disease pathway


Label Type Compact Identifier
GARTF Protein uniprot:C9JKQ7
SAM Metabolite chebi:67040
serine Metabolite chebi:17822
THF Metabolite chebi:20506
5-Methyl-THF Metabolite chebi:15641
FIGLU Protein eccode:
MTHFS Protein ensembl:ENSG00000136371
NH4+ Metabolite chebi:28938
MTHFCH Protein eccode:
L-glutamic acid Metabolite chebi:16015
SAH Metabolite chebi:16680
CO2 Metabolite chebi:16526
glycine Metabolite chebi:15428
L-histidine Metabolite chebi:15971
Homocysteine Metabolite chebi:17230
DHF Metabolite chebi:15633
Pyrimidine metabolism Pathway wikipathways:WP4225
DNA methylation Pathway wikipathways:WP3359
Methionine Metabolite chebi:16643
Folic acid Metabolite chebi:27470
Purine Metabolism Pathway wikipathways:WP4224
Protein methylation Pathway wikipathways:WP4073
5,10-Methylene-THF Metabolite chebi:1989
PCFT Protein uniprot:Q96NT5
Folate receptor alpha Protein uniprot:P15328
Vitamin B12 Metabolite chebi:30411
5-formimino-THF Metabolite chebi:15639
5,10-Methenyl-THF Metabolite chebi:15638
GAR Metabolite chebi:18349
Formyl-GAR Metabolite chebi:18272
AICAR Metabolite chebi:2030
FAICAR Metabolite chebi:18381
10-Formyl-THF Metabolite chebi:15637
5-Formyl-THF Metabolite chebi:15640
dTMP Metabolite chebi:17013
dUMP Metabolite chebi:17622
AICART Protein uniprot:P31939
TS Protein uniprot:P04818
FTHFI Protein None
FTHFDH Protein uniprot:O75891
MS Protein uniprot:Q99707
SHMT Protein uniprot:P34897
FITHFCH Protein uniprot:O95954
DHFR Protein uniprot:B0YJ76
MTHFR Protein uniprot:P42898
MTHFD1 GeneProduct ensembl:ENSG00000100714
Folic acid Metabolite chebi:27470
THF Metabolite chebi:20506


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