| GENE NAME | ATP7A |
| CHROMOSOME | X |
| ENSEMBL ID | ENSG00000165240 |
| ENTREZ ID | 538 |
| UNIPROT ACCESSION NUMBER | Q04656 |
| GO MOLECULAR FUNCTION | protein binding; P-type monovalent copper transporter activity; cuprous ion binding; ATP binding; copper-dependent protein binding; copper ion binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-2262752; R-HSA-936837; R-HSA-6803544; R-HSA-8953897; R-HSA-3299685; R-HSA-983712; R-HSA-2262752; R-HSA-936837; R-HSA-6803544; R-HSA-168256; hsa04978; R-HSA-8953897; R-HSA-6803157; hsa01524; R-HSA-3299685; R-HSA-983712; R-HSA-168249; hsa04978; R-HSA-382551; hsa01524; R-HSA-168256; hsa04978; R-HSA-6803157; hsa01524; hsa04978; R-HSA-168249; R-HSA-382551; hsa01524 |
| 1 combination linked to ATP7A | OLI333 |
| 1 variant linked to ATP7A | ATP7A:c.2448A>C, p.Gln816His |
| 1 disease linked to ATP7A | Amyotrophic lateral sclerosis |