THE STRUCTURE OF THE N-NUCLEOTIDE BINDING DOMAIN OF WILSON'S DISEASE ATPASE

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。威尔逊病是一种遗传性疾病，除非在铜中毒导致的严重疾病发生之前发现并进行治疗，否则是致命的。威尔逊氏病在全世界大约每30,000人中就有一人患病。遗传缺陷会导致铜在肝脏或大脑中过度堆积。肝豆状核变性是一种常染色体隐性遗传病。负责基因是位于13号染色体上的ATP7B。该基因的序列被发现与另一种由铜转运缺陷引起的疾病门克斯病的ATP7A基因片段相似。类似的序列编码铜结合区，这是一种名为P型ATPase的跨膜泵的一部分，与门克斯病蛋白非常相似。本项目的目标是解决肝豆状核变性ATPase的N-核苷酸结合域(NABD)的结构。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson's Disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain. Wilson's Disease is transmitted as an autosomal recessive disease. The responsible gene is ATP7B that is located on chromosome 13. The sequence of the gene was found to be similar to sections of the gene ATP7A defective in Menkes disease, another disease caused by defects in copper transport. The similar sequences code for copper-binding regions, which are part of a transmembrane pump called a P-type ATPase that is very similar to the Menkes disease protein. The goal of this project is to solve the structure of the N-nucleotide binding domain (NABD) of the Wilson's disease ATPase.