EC Number   |
General Information |
Reference |
|---|
    2.7.1.6 | drug target |
a pharmacological inhibitor of galactokinase is hypothesized to be therapeutic strategy for treating galactosemia by reducing production of alpha-D-galactose 1-phosphate |
759557 |
| 2.7.1.6 | drug target |
possible drug target in the treatment of type I galactosemia |
758857 |
| 2.7.1.6 | malfunction |
an AtGALK T-DNA insertion mutant (atgalk) that (a) is AtGALK transcript deficient, (b) displays no GALK activity in vegetative tissues; and (c) accumulates Gal up to 6.8 mg/g FW in vegetative tissues, in contrast to wild-type plants. By constitutively overexpressing functional AtGALK cDNA, atgalk is functionally rescued |
723394 |
| 2.7.1.6 | malfunction |
galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hypergalactosemia and formation of cataracts. Systematically searched for the mutations that have been reported in the GALK1 protein that cause galactosemia type 2. Genetic variations form the basis of the evolution; however, not all genetic mutations are disease-causing |
759539 |
| 2.7.1.6 | metabolism |
bimodal expression of yeast GAL genes is controlled by a long noncoding RNA and a bifunctional galactokinase |
758729 |
| 2.7.1.6 | metabolism |
the enzyme catalyses the first committed step in the Leloir pathway |
758857 |
