The Galactosemia Proteins Database is a joint project between the
Laboratory of Bioinformatics at the
Institute of Food Science,
CNR, Avellino (Italy),
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. 184.108.40.206
(GALK1, E.C. 220.127.116.11
(GALE, E.C. 18.104.22.168
and galactose mutarotase
(GALM, E.C. 22.214.171.124
Moreover, we provide information about known missense variations for these enzymes, causing the
different forms of Galactosemia, namely Classic Galactosemia
Galactosemia type II or Galactokinase deficiency
Galactosemia type III or Galactose Epimerase deficiency
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