..:: Galactosemia Proteins Database 2.0 ::..

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., galactokinase (GALK1, E.C., UDP-galactose-4'-epimerase (GALE, E.C., and galactose mutarotase (GALM, E.C.

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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This website is maintained by Laboratory of Bioinformatics at Institute of Food Science, CNR, Avellino, as a benefit to the research and education community. This website is provided on an "as is" basis only and without warranty or representation, whether express or implied (including warranties of merchantability and fitness for a particular purpose) as to its accuracy, reliability, completeness or timeliness. The Laboratory of Bioinformatics, the Institute of Food Science, the CNR and their trustees, officers and employees are neither responsible for nor accept any liability for any direct or indirect loss or damages arising from or connected to the use of this website. Information on this website is subject to change without prior notice.

The database in this website is intended for research and educational purposes and is not intended to substitute for care by a licensed healthcare professional. Individuals, organizations and companies which use this database do so with the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s), the Laboratory of Bioinformatics, or the Institute of Food Science, or their respective trustees, officers, agents and employees arising from any use of the website or the effects of any product, process or method that may be produced or adopted by any party, notwithstanding that the formulation of such product, process or method may be based upon information here provided.
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Galactosemia Proteins Database 2.0 version 1.22 (updated 26-June-2024)