Literature summary for 2.7.7.12 extracted from
De Lucca, M.; Casique, L.; Cornejo, V.
Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity An overview of galactosemia type I (2019), Molecular Nutrition: Carbohydrates (ed. Patel V.B.), 2019, 369-395 .
No PubMed abstract available
Protein Variants
Protein Variants |
Comment |
Organism |
K285N |
the p.K285N allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype |
Homo sapiens |
Q188R |
the p.Q188R allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype |
Homo sapiens |
S135L |
the substitution p.S135L is common in Africans and is associated to a mild phenotype albeit having less than 1% residual enzymatic GALT activity |
Homo sapiens |
Organism
Organism |
UniProt |
Comment |
Textmining |
Homo sapiens |
P07902 |
- |
- |
Synonyms
Synonyms |
Comment |
Organism |
galactose-1-phosphate uridylyltransferase |
- |
Homo sapiens |
General Information
General Information |
Comment |
Organism |
malfunction |
galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzyme (GALT). Galactosemic patients show accumulation of Gal, Gal-1-P, galactitol, and galactonate and decrease levels of UDP-hexoses, all are responsible of the observed phenotype. Galactosemia type I patients harbor variations along the whole sequence of the GALT gene, most variations are of the missense type and are commonly present in compound heterozygous state |
Homo sapiens |
metabolism |
enzyme of the Leloir pathway |
Homo sapiens |