Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J
Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California.
Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.
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.
门克斯病是一种X连锁的铜转运障碍疾病，其特征为进行性神经退行性变并在儿童早期死亡。我们分离出了一个门克斯病的候选基因（Mc1），并在21名门克斯病患者中的16名患者体内发现了该基因mRNA存在定性或定量异常。4名缺乏Mc1RNA的患者显示出门克斯基因重排。该基因编码一种1500个氨基酸的蛋白质，预计是一种P型阳离子转运ATP酶。该基因产物与一种细菌铜转运ATP酶最为相似，并且在N端还含有六个假定的金属结合基序。除肝脏外，该基因在所有测试的细胞类型中均有转录，这与门克斯病缺陷的表现一致。
