Crystal Structure of Human β-Galactosidase: The Structural Basis of GM1 Gangliosidosis and Morquio B Diseases

Background Deficiencies in β-D-galactosidase cause lysosomal storage diseases. Results This is the first to describe the crystal structure of human β-GAL. Human β-GAL is comprised of a TIM barrel domain and two -domains. Conclusion The mutations were classified as mutations directly affecting the ligand recognition, mutations inside the protein core, or mutations located in the protein surface. Significance Structural insights into lysosomal storage diseases mutations can be demonstrated.