Literature summary extracted from

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

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
7.2.2.8	ATP + H2O + Cu+[side 1]	Homo sapiens	-	ADP + phosphate + Cu+[side 2]	-	?

Organism

EC Number	Organism	UniProt	Comment	Textmining
7.2.2.8	Homo sapiens	Q04656	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
7.2.2.8	brain	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

EC Number	Synonyms	Comment	Organism
7.2.2.8	ATP7A	-	Homo sapiens
7.2.2.8	copper ATPase	-	Homo sapiens

General Information

EC Number	General Information	Comment	Organism
7.2.2.8	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
7.2.2.8	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

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Release 2023.1 (January 2023)