THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE

Wilson disease (WD) is an autosomal recessive disorder characterized b y the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage dise quilibrium & haplotype analysis confirmed the disease locus to a singl e marker interval at 13q14.3. Here we describe a partial cDNA clone (p WD) which maps to this region and shows a particular 76% amino acid ho mology to th Menkes disease gene, Mc1. The predicted functional proper ties 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.