| GENE NAME | MTHFS |
| CHROMOSOME | 15 |
| ENSEMBL ID | ENSG00000136371 |
| ENTREZ ID | 10588 |
| UNIPROT ACCESSION NUMBER | P49914 |
| GO MOLECULAR FUNCTION | 5-formyltetrahydrofolate cyclo-ligase activity; ATP binding; nucleotide binding; ligase activity; folic acid binding; metal ion binding |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa01100; R-HSA-1430728; R-HSA-196757; hsa00670; R-HSA-196849; R-HSA-196854 |
| 1 combination linked to MTHFS | OLI717 |
| 1 variant linked to MTHFS | MTHFS:c.320C>T, p.Thr107Ile |
| 1 disease linked to MTHFS | Isolated anencephaly |