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GALT protein database: querying structural and functional features of GALT enzyme
Antonio d'Acierno1, Angelo Facchiano, Anna Marabotti
1Institute of Food Science, CNR, Avellino, 83100, Italy.
Human Mutation
|July 4, 2014
Summary
The updated GALT Protein Database now includes 201 missense variants of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, aiding research into Galactosemia genetic disease mechanisms.
Area of Science:
- Biochemistry
- Genetics
- Structural Biology
Background:
- Understanding protein structure variations is crucial for deciphering genetic disease mechanisms.
- Classic Galactosemia, a rare genetic disorder, results from the impairment of the galactose-1-phosphate uridylyltransferase (GALT) enzyme.
Purpose of the Study:
- To present an enhanced version of the GALT Protein Database, a web-accessible repository for structural variation data.
- To provide insights into the impact of missense variants on GALT enzyme structure and function.
- To improve accessibility for non-specialized users through new tools and interactive visualizations.
Main Methods:
- Database development and expansion.
- Inclusion of 201 missense variants, including heterozygous variants.
- Development of tools for interactive visualization and analysis of variant impacts.
Main Results:
- The new database version incorporates models for 201 GALT missense variants.
- Users can retrieve information and investigate the structural effects of these variations.
- Interactive visualization tools are available for exploring variant models.
Conclusions:
- The enhanced GALT Protein Database facilitates the study of GALT enzyme variations and their link to Galactosemia.
- This resource serves as a model for similar databases focused on other disease-related proteins with genetic variations.
- Improved tools enhance usability for a broader range of researchers.
Keywords:
Classic GalactosemiaGALTdatabasegalactose-1-phosphate uridylyltransferasemolecular modellingstructural analysisMore Related Videos
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