THE DILEMMA TO UNDERSTAND THE ROLE OF ATP7B IN WILSON DISEASE BY USING IN SILICO APPROACH

Abstract

Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in organs, especially the liver and brain. The ATP7B gene encodes a copper-transporting ATPase involved in copper excretion into bile and incorporation into ceruloplasmin. This study aimed to identify ATP7B mutations and analyze its protein-protein interactions using in silico bioinformatics tools. Mutational analysis revealed gene-specific mutations, conserved domains, structural features, functional variants, and evolutionary relationships. It also assessed the protein’s physicochemical properties and function. Findings highlights the value of in silico approaches to understand Wilson disease pathogenesis. Despite advancements, further research is needed to fully understand the genetic basis of Wilson disease.