半乳糖瓦尔登转化酶抗体-抗体-抗体-生物在线
北京索莱宝科技有限公司
半乳糖瓦尔登转化酶抗体

半乳糖瓦尔登转化酶抗体

商家询价

产品名称: 半乳糖瓦尔登转化酶抗体

英文名称: GALE

产品编号: bs-13265R

产品价格: null

产品产地: 北京

品牌商标: BIOSS

更新时间: 2025-01-08T10:30:41

使用范围: WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,

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This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]