| GENE NAME | MTHFD1 |
| CHROMOSOME | 14 |
| ENSEMBL ID | ENSG00000100714 |
| ENTREZ ID | 4522 |
| UNIPROT ACCESSION NUMBER | P11586 |
| GO MOLECULAR FUNCTION | formate-tetrahydrofolate ligase activity; protein binding; methylenetetrahydrofolate dehydrogenase (NADP+) activity; methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity; methenyltetrahydrofolate cyclohydrolase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00670; hsa01240; hsa01100; R-HSA-1430728; hsa00670; hsa01100; hsa01240; R-HSA-196757; R-HSA-196854; R-HSA-196849 |
| 2 combinations linked to MTHFD1 | OLI718; OLI699 |
| 2 variants linked to MTHFD1 | MTHFD1:c.878G>A, p.Arg293His; MTHFD1:c.1673C>T, p.Thr558Met |
| 1 disease linked to MTHFD1 | Isolated anencephaly |