Details for Gene ALDH5A1

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

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