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.,
cytoplasm,cytosol,membrane,extracellular exosome,
Blood,Brain,Fetal brain cortex,Lung,
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