The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval at 13q14.3. Here we describe a partial cDNA clone ( pWD ) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1. The predicted functional properties of the pWD gene together with its strong homology to Mc1 , genetic mapping data and identification of four independent disease–specific mutations, provide convincing evidence that pWD is the Wilson disease gene.