| GENE NAME | MTHFD1L |
| CHROMOSOME | 6 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000120254 |
| UNIPROT ACCESSION NUMBER | Q6UB35 |
| GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'methylenetetrahydrofolate dehydrogenase (NADP+) activity', 'ATP binding', 'formate-tetrahydrofolate ligase activity'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa00670; hsa01100; hsa01240; R-HSA-1430728; R-HSA-196757; R-HSA-196849; R-HSA-196854 |
| 2 combinations linked to MTHFD1L | OLI738; OLI1471 |
| 2 variants linked to MTHFD1L | MTHFD1L:c.1841C>T, p.Ala614Val; MTHFD1L:c.1691G>A, p.Arg564His |
| 2 diseases linked to MTHFD1L | NON RARE IN EUROPE: Alzheimer disease; Isolated anencephaly |