| First Author | Vulpe C | Year | 1993 |
| Journal | Nat Genet | Volume | 3 |
| Issue | 1 | Pages | 7-13 |
| PubMed ID | 8490659 | Mgi Jnum | J:3609 |
| Mgi Id | MGI:52120 | Doi | 10.1038/ng0193-7 |
| Citation | Vulpe C, et al. (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase [published erratum appears in Nat Genet 1993 Mar;3(3):273] [see comments]. Nat Genet 3(1):7-13 |
| abstractText | 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. |
