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

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。威尔逊氏病是一种遗传性疾病，除非在铜中毒引起的严重疾病发展之前发现和治疗，否则是致命的。全世界大约每3万人中就有1人患有威尔逊氏症。这种遗传缺陷会导致过量的铜积聚在肝脏或大脑中。威尔逊氏病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。发现该基因的序列与另一种由铜运输缺陷引起的疾病Menkes病中ATP7A基因缺陷的片段相似。相似的序列为铜结合区编码，铜结合区是跨膜泵的一部分，称为p型atp酶，与门克斯病蛋白非常相似。该项目的目标是解决威尔逊病atp酶的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.