Menkes Copper-Translocating P-type ATPase (ATP7A): Biochemical and Cell Biology Properties, and Role in Menkes Disease
Menkes Copper-Translocating P-type ATPase (ATP7A): Biochemical and Cell Biology Properties, and Role in Menkes Disease
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DOI：
10.1023/a:1021250003104
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发表时间：
2002-10
影响因子：
3
通讯作者：
I. Voskoboinik;J. Camakaris
中科院分区：
文献类型：
--
作者：
I. Voskoboinik;J. Camakaris
门克斯铜转位P型ATPase(ATP7A；MNK)是一种普遍存在的蛋白质，调节胃肠道对铜的吸收。在细胞内，这种蛋白质具有双重功能：它将铜输送给高尔基体隔间的铜酶，并将多余的铜排出体外。后一种特性是通过依赖于铜的囊泡将Menkes蛋白运输到细胞的质膜而实现的。转运机制和催化活性相结合，促进了铜的吸收和胞间转运。本文对Menkes蛋白的催化机制和铜依赖转运机制进行了综述。门克斯病是一种全身性铜缺乏症，由编码门克斯蛋白的基因突变引起。这些突变对Menkes蛋白的催化循环和细胞生物学的影响，以及特定突变的MNKs对观察到的Menkes病症状的影响的预测也将被讨论。
The Menkes copper-translocating P-type ATPase (ATP7A; MNK) is a ubiquitous protein that regulates the absorption of copper in the gastrointestinal tract. Inside cells the protein has a dual function: it delivers copper to cuproenzymes in the Golgi compartment and effluxes excess copper. The latter property is achieved through copper-dependent vesicular trafficking of the Menkes protein to the plasma membrane of the cell. The trafficking mechanism and catalytic activity combine to facilitate absorption and intercellular transport of copper. The mechanism of catalysis and copper-dependent trafficking of the Menkes protein are the subjects of this review. Menkes disease, a systemic copper deficiency disorder, is caused by mutations in the gene encoding the Menkes protein. The effect of these mutations on the catalytic cycle and the cell biology of the Menkes protein, as well as predictions of the effect of particular mutant MNKs on observed Menkes disease symptoms will also be discussed.