Summary
Performance
Immunogen
Application
Background
Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008],catalytic activity:ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate.,disease:Defects in GALK1 are the cause of galactosemia II [MIM:230200]. It is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.,function:Major enzyme for galactose metabolism.,pathway:Carbohydrate metabolism; galactose metabolism.,similarity:Belongs to the GHMP kinase family.,similarity:Belongs to the GHMP kinase family. GalK subfamily.,
Research Area
Galactose metabolism;Amino sugar and nucleotide sugar metabolism;
