Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Article Details
- CitationCopy to clipboard
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Nat Genet. 1993 Jan;3(1):7-13.
- PubMed ID
- 8490659 [ View in PubMed]
- 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.