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Published on: December 20, 2017
Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry
Seiji Saito1, Kazuki Ohno, Hitoshi Sakuraba
1Graduate School of Agricultural and Life Science, The University of Tokyo, Tokyo, Japan.
Abstract:
Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the best of our knowledge, there is no database including the structures of mutant GLAs. Herein, we constructed a database of clinical phenotypes, genotypes and structures of mutant GLAs. This database can be accessed as 'fabry-database.org', and is user friendly, being equipped with powerful computational tools. This database will help researchers and clinicians who study Fabry disease.
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