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Nat Genet. 1993 Jan;3(1):7-13.

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

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  • 1Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California.

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  • Nat Genet 1993 Mar;3(3):273.

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 Mc1RNA 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.

[PubMed - indexed for MEDLINE]
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