Gene ATP7B

Also known as

WND, WC1, PWD, PNWND

Overview

ATP7B (ATPase Copper Transporting Beta) encodes a copper-transporting P-type ATPase primarily expressed in the liver. This protein is essential for incorporating copper into ceruloplasmin and for biliary copper excretion, making it crucial for maintaining copper homeostasis in the body.

Mutations in ATP7B cause Wilson disease, an autosomal recessive disorder of copper metabolism. Affected individuals accumulate copper in the liver, brain, and other organs, leading to hepatic dysfunction, neurological symptoms, and psychiatric manifestations. The characteristic Kayser-Fleischer rings (copper deposits in the cornea) are a hallmark diagnostic finding. Carrier frequency is approximately 1 in 90.

Early diagnosis and treatment of Wilson disease with copper chelating agents (penicillamine, trientine) or zinc can prevent irreversible organ damage. Understanding your ATP7B genetic status is important for early detection and family screening, as timely treatment can dramatically improve outcomes.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene ATP7B through your personalized DNA reports.