Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

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Abstract
Menkes disease is an X–linked disorder of copper transport characterized by progressive neurological degeneration and death in early childhood. We have isolated a candidate gene (Mc1) for Menkes disease and find qualitative or quantitative abnormalities in the mRNA in sixteen of twenty–one Menkes patients. Four patients lacking Mc1 RNA showed rearrangements of the Menkes gene. The gene codes for a 1,500 amino acid protein, predicted to be a P–type cation–transporting ATPase. The gene product is most similar to a bacterial copper–transporting ATPase and additionally contains six putative metal–binding motifs at the N–terminus. The gene is transcribed in all cell types tested except liver, consistent with the expression of the Menkes defect.