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 |