靶标：
GALT
产品别名：
GALT； galactose-1-phosphate uridylyltransferase； galactose-1-phosphate uridylyltransferase； galactose-1-phosphate uridylyltransferase； UDP-glucose--hexose-1-phosphate uridylyltransferase； gal-1-P uridylyltransferase； galactose-1-phosphate uridyl transferase； 半乳糖-1-磷酸尿苷酰转移酶(GALT)； 磷酸半乳糖尿苷酸转移酶1；
背景信息：
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene.
