| GENE NAME | MTHFR |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000177000 |
| ENTREZ ID | 4524 |
| UNIPROT ACCESSION NUMBER | P42898 |
| GO MOLECULAR FUNCTION | catalytic activity; flavin adenine dinucleotide binding; methylenetetrahydrofolate reductase (NAD(P)H) activity; FAD binding; oxidoreductase activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa01523; R-HSA-1430728; hsa01100; R-HSA-196849; R-HSA-196854; hsa01200; R-HSA-196757; hsa00670 |
| 3 combinations linked to MTHFR | OLI706; OLI709; OLI434 |
| 3 variants linked to MTHFR | MTHFR:c.136C>T, p.Arg46Trp; MTHFR:c.1409A>T, p.Glu470Val; MTHFR:c.601C>T, p.His201Tyr |
| 2 diseases linked to MTHFR | Isolated anencephaly; Rare pervasive developmental disorder |