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

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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.