检测编号：NS0290069

基因 GALT 与疾病

GALT基因编码的酶在半乳糖代谢中起关键作用，该基因突变使得酶活性丧失，从而影响半乳糖的正常代谢，导致一些后续反应无法正常进行，造成致命的基因缺陷。

基因名称	基因全名	基因位置	外显子个数	CDS长度
GALT	galactose-1-phosphate uridylyltransferase	9p13	11	约1405 bp
基因摘要	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. [provided by RefSeq, Apr 2012].