..:: Galactosemia Proteins Database 2.0 ::..
General Part

Structural data

The Galactosemia Proteins Database is a joint project between the Laboratory of Bioinformatics at the Institute of Food Science, CNR, Avellino (Italy), and the Department of Chemistry and Biology "A. Zambelli", University of Salerno, Fisciano (Italy).

This is a database in which we collected and provide information about structural features of enzymes involved in the galactose metabolism, i.e. galactose-1-phosphate uridylyltransferase (GALT, E.C. 2.7.7.12), galactokinase (GALK1, E.C. 2.7.1.6), UDP-galactose-4'-epimerase (GALE, E.C. 5.1.3.2), and galactose mutarotase (GALM, E.C. 5.1.3.3).

Moreover, we provide information about known missense variations for these enzymes, causing the different forms of Galactosemia, namely Classic Galactosemia (OMIM #230400), Galactosemia type II or Galactokinase deficiency (OMIM #230200), Galactosemia type III or Galactose Epimerase deficiency (OMIM #230350) and Galactosemia type IV or Galactose Mutarotase deficiency, and about their predicted effects on proteins structure and, possibly, functions, obtained by modeling and analyzing the structures of the missense variants. This information would be useful for all researchers involved in the biochemical study of this protein, in understanding the effects of these variations on the protein structures, and (hopefully) to clarify the link between the structure and the function of the enzymes and the different forms of this genetic disease.

This archive is currently updated every four months in a semi-automated way with data about new variants that are published in the scientific literature, but we also offer our collaboration to researchers interested in simulating the structural effects of the variations they are studying, even if they are not yet published.

Moreover, we offer a series of links to other medical database, associations, and other information useful for the "Galactosemia community", in an effort to develop a new "meeting point" for all people that each day are directly fighting against this genetic disease.

All comments and contributions are welcome.

For contacts, please here.

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Database
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Galactosemia Proteins Database 2.0 version 1.22 (updated 08-July-2024)