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

威尔逊病ATP酶的N-核苷酸结合域的结构

• 批准号: 7420569
• 负责人: SVETLANA LUTSENKO
• 金额: $ 0.43万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-20 至 2007-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7420569
• 关键词: copper; genes; nucleotides

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.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中得到体现。列出的机构是中心的机构，不一定是研究者的机构。威尔逊氏病是一种致命的遗传性疾病，除非在铜中毒导致严重疾病之前被发现并进行治疗，否则这种疾病是致命的。威尔逊氏病影响全世界大约三万分之一的人。遗传缺陷导致肝脏或大脑中铜积累过多。威尔逊氏病作为常染色体隐性遗传疾病传播。负责的基因是位于 13 号染色体上的 ATP7B。该基因的序列被发现与门克斯病（另一种由铜转运缺陷引起的疾病）中缺陷的基因 ATP7A 的部分相似。相似的序列编码铜结合区域，这是称为 P 型 ATP 酶的跨膜泵的一部分，与门克斯病蛋白非常相似。该项目的目标是解析威尔逊氏病 ATP 酶的 N 核苷酸结合域 (NABD) 的结构。