EC Number   |
General Information |
Reference |
|---|
    2.7.7.12 | drug target |
galactose-1-phosphate uridyltransferase (GALT) provides immune protection in the murine model, and confers partial cross protection against heterologous APP sevorars. The enzyme is an effective cross-protective antigen, which can be used as a potential vaccine candidate against multiple Actinobacillus leuropneumoniae serotypes. An in vivo-induced antigen of Actinobacillus pleuropneumoniae serovar 5b strain L20, provides immunoprotection against serovar 1 strain MS71 |
-, 762239 |
| 2.7.7.12 | evolution |
GALT belongs to the histidine triad family of transferases |
722427 |
| 2.7.7.12 | malfunction |
a galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model reveals reduced fertility and growth restriction. Mutant mice experience cerebellar hypoplasia, which may result from the down-regulation of the PI3K/Akt signaling pathway |
761651 |
| 2.7.7.12 | malfunction |
classic galactosemia (CG) is a potentially lethal inborn error of metabolism, if untreated, that results from profound deficiency of galactose-1-phosphate. An uidylyltransferasegalactose-1-phosphate uridylyltransferase-null rat model of CG documentes phenotypes and defines the relationships among three key galactose metabolites in different tissues and across post-natal development |
761652 |
| 2.7.7.12 | malfunction |
classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase |
761227 |
| 2.7.7.12 | malfunction |
Duarte galactosemia results from partial impairment of galactose-1-phosphate uridylyltransferase |
703954 |
| 2.7.7.12 | 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 |
761946 |
| 2.7.7.12 | 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 |
760856 |
| 2.7.7.12 | malfunction |
genetic defects of human galactose-1-phosphate uridyltransferase are responsible for classical galactosemia, a are genetic metabolic disorder that is passed down in an autosomal recessive manner. Classical galactosemia mainly occurs due to reduced activity of the enzyme GALT owing to a single nucleotide change in the galactose-1-phosphate uridylyltransferase gene (GALT; 9p13.3). Low activity of the GALT enzyme results in increased accumulation of galactose-1-phosphate in a variety of tissues resulting in severe clinical representation, including liver dysfunction, cataract formation, vomiting, hepatomegaly, hypotonia, septicemia, weight loss, diarrhea, jaundice, lethargy, bleeding tendencies, and ovarian failure, which vary from patient to patient. Intellectual retardation, and developmental and cognitive defects are also observed in patients with galactosemia |
760919 |
| 2.7.7.12 | malfunction |
reduced galactose 1-phosphate uridylyltransferase activity is associated with the genetic disease type I galactosemia. Enzyme-deficiency results in an increase in the cellular concentration of galactose 1-phosphate. The accumulation of this toxic metabolite, combined with aberrant glycoprotein and glycolipid biosynthesis, is likely to be the major factor in molecular pathology |
722427 |
