靶标：
GALE
产品别名：
SDR1E1； GALE； UDP-galactose-4-epimerase； UDP-galactose-4-epimerase； UDP-glucose 4-epimerase； UDP galactose-4'-epimerase； UDP-GalNAc 4-epimerase； UDP-GlcNAc 4-epimerase； UDP-N-acetylgalactosamine 4-epimerase； UDP-N-acetylglucosamine 4-epimerase； epididymis secretory sperm binding protein； galactose-4-epimerase, UDP-； galactowaldenase； short chain dehydrogenase/reductase family 1E, member 1； 半乳糖瓦尔登转化酶；
背景信息：
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],
