Genz-123346 is primarily utilized in the research and development of treatments for genetic disorders, particularly those related to enzyme deficiencies. It functions as a pharmacological chaperone, aiding in the correct folding and stabilization of misfolded proteins, which can enhance enzyme activity and reduce disease progression. This compound is being explored in preclinical studies for its potential to address lysosomal storage disorders, such as Gaucher disease and Fabry disease. Additionally, it shows promise in improving the efficacy of enzyme replacement therapies by increasing the stability and lifespan of therapeutic enzymes in the body. Its application is also being investigated in neurodegenerative conditions where protein misfolding plays a critical role.