ATP7A
Chr XXLRATPase copper transporting alpha
Also known as: DSMAX, HMNX, MK, MNK, SMAX3
ATP7A encodes an ATP-driven copper pump that transfers copper ions across membranes, supplying copper to enzymes in the secretory pathway at the trans-Golgi network and exporting excess copper at the plasma membrane. Mutations cause X-linked recessive disorders including Menkes disease, occipital horn syndrome, and X-linked distal hereditary motor neuronopathy. The pathogenesis results from impaired copper homeostasis leading to deficiency of copper-dependent enzymes essential for connective tissue formation, neurotransmission, and other cellular processes.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP7A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools