Cloned (Comment) | Organism |
---|---|
gene ATP7A, located on chromosome Xq13.1-q21, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
P1386S | naturally occuring mutation, a transition mutation of c.4156C>T in exon 22 | Homo sapiens |
T994I | naturally occuring mutation, a transition mutation of c.2981C>T in exon 15 | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | required | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + H2O + Cu2+/in | Homo sapiens | - |
ADP + phosphate + Cu2+/out | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene ATP7A | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + H2O + Cu2+/in | - |
Homo sapiens | ADP + phosphate + Cu2+/out | - |
? |
Synonyms | Comment | Organism |
---|---|---|
copper transporter | - |
Homo sapiens |
More | the enzyme belongs to the P-type ATPases | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | mutation of ATP7A is involved in Menkes disease, a severe infantile-onset neurodegenerative disorder | Homo sapiens |