Details for Gene CHAT

GENE NAME CHAT
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000070748
UNIPROT ACCESSION NUMBER P28329
GO MOLECULAR FUNCTION ['choline O-acetyltransferase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00564; hsa04725; R-HSA-112310; R-HSA-112315; R-HSA-112316; R-HSA-1430728; R-HSA-1483191; R-HSA-1483206; R-HSA-1483257; R-HSA-264642; R-HSA-556833
3 combinations linked to CHAT OLI1470; OLI335; OLI1471
2 variants linked to CHAT CHAT:c.74C>G, p.Thr25Arg; CHAT:c.2629G>A, p.Ala877Thr
2 diseases linked to CHAT NON RARE IN EUROPE: Alzheimer disease; Amyotrophic lateral sclerosis

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