Details for Gene APTX

GENE NAME APTX
CHROMOSOME 9
ENSEMBL ID ENSG00000137074
ENTREZ ID 54840
UNIPROT ACCESSION NUMBER A0A0A0MRW7
GO MOLECULAR FUNCTION DNA binding; catalytic activity; DNA-3'-diphospho-5'-guanosine diphosphatase; metal ion binding; DNA 5'-adenosine monophosphate hydrolase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
1 combination linked to APTX OLI330
1 variant linked to APTX APTX:c.431C>A, p.Ser144Tyr
1 disease linked to APTX Amyotrophic lateral sclerosis

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