ATP7B
Chr 13ARATPase copper transporting beta
Also known as: PWD, WC1, WD, WND
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP7B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
RECRUITINGA Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)
RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
RECRUITINGDescription of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
RECRUITINGMultifaceted Assessment of Patients With Wilson's Disease in a Low-Resource Setting in Upper Egypt: Service Integration, Psychosocial Burden, Dietary Practices, and the Geo-Spatial Disease Map
NOT YET RECRUITINGAn Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease
ACTIVE NOT RECRUITINGA Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
ACTIVE NOT RECRUITINGPhase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)
NOT YET RECRUITINGA Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease
ACTIVE NOT RECRUITINGGene Therapy for Wilson Disease Evaluated by 64Cu PET/CT
ENROLLING BY INVITATIONPrescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools