Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + H2O + Cu+[side 1] | Homo sapiens | - |
ADP + phosphate + Cu+[side 2] | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q04656 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + H2O + Cu+[side 1] | - |
Homo sapiens | ADP + phosphate + Cu+[side 2] | - |
? |
Synonyms | Comment | Organism |
---|---|---|
ATP7A | - |
Homo sapiens |
copper ATPase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | copper deficiency causes Menkes disease in pediatric subjects with a phenotype underlying a X-linked recessive disorder of growth retardation, neurodegeneration, and peculiar hair. Mutations in the gene encoding the enzyme are implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy. Disorders caused by impaired ATP7A function and clinical phenotypes associated with disturbed copper metabolism involving hypotonia, seizures, developmental delay, brain atrophy, and coarse, lightly pigmented hair that rubs off easily, jowly facies, lax skin and joints, decreased bone density, bladder diverticula, gastric polyps, venous aneurysms, cardiac defects, vascular tortuousity, and blue irides, overview. The MEDNIK syndrome is caused by mutations in the s1A subunit of adaptor protein complex 1 (AP-1), which leads to detrimental effects on ATP7A trafficking | Homo sapiens |
physiological function | enzyme ATP7A is a highly conserved ion-motive ATPase and a critical copper transport protein with multiple important cellular functions, e.g. role of ATP7A at the blood-brain and the blood-CSF barriers and the specific functions of the copper transporter in glutamatergic, acetylcholinergic, and other neurons | Homo sapiens |