GENE NAME | ALDH5A1 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000112294 |
ENTREZ ID | 7915 |
UNIPROT ACCESSION NUMBER | P51649 |
GO MOLECULAR FUNCTION | identical protein binding; succinate-semialdehyde dehydrogenase (NAD+) activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-916853; hsa01100; hsa01100; R-HSA-112315; R-HSA-112316; hsa00650; hsa00250; hsa00650; R-HSA-112310; R-HSA-888590; hsa00250 |
1 combination linked to ALDH5A1 | OLI932 |
2 variants linked to ALDH5A1 | ALDH5A1:c.612G>A, p.Trp204Ter; ALDH5A1:c.538C>T, p.His180Tyr |
1 disease linked to ALDH5A1 | Rare pervasive developmental disorder |