GALK1 Rabbit Polyclonal Antibody

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.