Details for Gene ALDH1A2

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

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