GENE NAME | ALDH1A2 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000128918 |
UNIPROT ACCESSION NUMBER | O94788 |
GO MOLECULAR FUNCTION | ['aldehyde dehydrogenase (NAD+) activity', 'retinal dehydrogenase activity', 'retinal binding', '3-chloroallyl aldehyde dehydrogenase activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa00830; hsa01100; R-HSA-162582; R-HSA-5362517; R-HSA-5365859; R-HSA-9006931 |
2 combinations linked to ALDH1A2 | OLI1691; OLI726 |
2 variants linked to ALDH1A2 | ALDH1A2:c.590T>C, p.Ile197Thr; ALDH1A2:c.173A>G, p.Tyr58Cys |
2 diseases linked to ALDH1A2 | Isolated anencephaly; Non-Syndromic genetic keratoconus |