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Literature summary for 7.2.2.8 extracted from

  • Kaler, S.G.
    Translational research investigations on ATP7A: an important human copper ATPase (2014), Ann. N. Y. Acad. Sci., 1314, 64-68.
    View publication on PubMedView publication on EuropePMC

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q04656
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + Cu+[side 1]
-
Homo sapiens ADP + phosphate + Cu+[side 2]
-
?

Synonyms

Synonyms Comment Organism
ATP7A
-
Homo sapiens
copper ATPase
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Homo sapiens

General Information

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