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ATP7A

Gene

ATPase copper transporting alpha

HGNCHGNC:869EnsemblENSG00000165240NCBI Gene538
Locus: gene with protein productLocation: Xq21.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asMNK
View full nomenclature history (5)
Previous symbolsMNK
Previous namesMenkes syndrome, ATPase, Cu++ transporting, alpha polypeptide
Alias namescopper pump 1, copper-transporting ATPase 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Hirschsprung disease
Ehlers-Danlos Syndrome
Charcot-Marie-Tooth Disease

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

ATPase copper transporting

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-09-13.
Open TargetsGene–disease associations from the Open Targets Platform.