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Literature summary for 7.2.2.9 extracted from

  • de Bie, P.; Muller, P.; Wijmenga, C.; Klomp, L.W.
    Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes (2007), J. Med. Genet., 44, 673-688.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 7.2.2.9

Application

Application Comment Organism
medicine molecular mechanisms of copper deficiency (Menkes disease) or copper overload (Wilson disease) Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information effects of Wilson disease-causing missense mutations on function and regulation of ATP7B, correlation between genetic defects with molecular functions of ATP7A and ATP7B and with clinical expression of these disorders Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + H2O + Cu2+/in Homo sapiens
-
 ADP + phosphate + Cu2+/out
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P35670
-
-

Source Tissue

Source Tissue Comment Organism Textmining
hepatocyte copper-induced relocalization summarized in Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 molecular mechanisms of ATP7A and ATP7B function and the effects of disease-causing mutations, genotype-phenotype correlations in the development of Menke disease and Wilson disease Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + Cu2+/in
-
 Homo sapiens ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in functions of ATP7A and ATP7B in copper transport reviewed, catalytic ATPase activity, copper-induced trafficking, post-translational modifications and protein-protein interactions summarized Homo sapiens ADP + phosphate + Cu2+/out
-
 ?

Synonyms

Synonyms Comment Organism
ATP7B
-
 Homo sapiens
Wilson copper-transporting ATPase
-
 Homo sapiens