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Literature summary for 2.7.7.12 extracted from

  • Janes, V.; Grabany, S.; Delbrouck, J.; Vincent, S.P.; Gottschalk, J.; Elling, L.; Hanisch, F.G.
    Fluorinated galactoses inhibit galactose-1-phosphate uridyltransferase and metabolically induce galactosemia-like phenotypes in HEK-293 cells (2020), Cells, 9, 607 .
    View publication on PubMed
Search for more literature for 2.7.7.12

Inhibitors

Inhibitors Comment Organism Structure
2-fluoro-galactose-1-phosphate competitively inhibit recombinant enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P07902
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
galactose-1-phosphate uridyltransferase
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 Homo sapiens
GALT
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 Homo sapiens

Ki Value [mM]

Ki Value [mM] Ki Value maximum [mM] Inhibitor Comment Organism Structure
0.9
-
 2-fluoro-galactose-1-phosphate pH and temperature not specified in the publication Homo sapiens

General Information

General Information Comment Organism
malfunction genetic defects of human galactose-1-phosphate uridyltransferase (hGALT) and the partial loss of enzyme function result in an altered galactose metabolism with serious long-term developmental impairment of organs in classic galactosemia patients. GALT deficiency (classic galactosemia) leads to an accumulation of galactose-1-phosphate, is associated with a potentially lethal acute hepatotoxic syndrome, unless affected newborns are kept under a galactose-restricted diet. Endogenously synthesized galactose however, can exert chronic cell toxic effects and worsen the prospects of patient son longer terms. Most patients suffer from a cognitive impairment, from speech defects, motor function disturbances, and a hypergonadotropic hypogonadism in female patients. The metabolic induction of galactosemia-like phenotypes in healthy epithelial/neuronal cells can support studies on the molecular pathomechanisms in classic galactosemia, in particular under conditions of low galactose stress and residual GALT activity Homo sapiens
metabolism enzyme in the Leloir pathway Homo sapiens