| GENE NAME | ALDH1L1 |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000144908 |
| ENTREZ ID | 10840 |
| UNIPROT ACCESSION NUMBER | O75891 |
| GO MOLECULAR FUNCTION | hydroxymethyl-, formyl- and related transferase activity; protein binding; catalytic activity; formyltetrahydrofolate dehydrogenase activity; aldehyde dehydrogenase (NAD+) activity; oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor; oxidoreductase activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-196849; R-HSA-196854; R-HSA-196757; hsa00670; R-HSA-1430728 |
| 5 combinations linked to ALDH1L1 | OLI703; OLI694; OLI696; OLI690; OLI741 |
| 5 variants linked to ALDH1L1 | ALDH1L1:c.2236G>A, p.Val746Met; ALDH1L1:c.2341A>C, p.Thr781Pro; ALDH1L1:c.1307T>C, p.Ile436Thr; ALDH1L1:c.2266C>G, p.His756Asp; ALDH1L1:c.2657A>G, p.Lys886Arg |
| 1 disease linked to ALDH1L1 | Isolated anencephaly |