GALK1 enzyme is needed in the first step of the galactose metabolism pathway.
(ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate). GALK1 deficinecy lead galactosemia II which is an autosomal recessive deficiency known by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
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来源宿主
大肠杆菌中重组表达
溶解建议
提供的人半乳糖激酶-1(GALK1)产品为过滤灭菌的无色溶液;其中人半乳糖激酶-1(GALK1)产品溶解于20mM Tris pH 8,10%甘油溶液中.