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 |