Background：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.
仕様
Synonyms：FLJ95174,FLJ97302,Galactose 4 epimerase UDP,Galactowaldenase,galE,GALE,OTTHUMP00000002991,OTTHUMP00000002994,OTTHUMP00000037931,OTTHUMP00000044857,SDR1E1,short chain dehydrogenase/reductase family 1E member 1,UDP galactose 4 epimerase,UDP galactose 4' epimerase,UDP glucose 4 epimerase,UDP-galactose 4-epimerase,UDP-glucose 4-epimerase
Host：Rabbit
Reactivity：Human,Mouse,Rat
Applications：WB,IF
Concentration：1mg/ml
Immunogen：Recombinant protein of human GALE
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB 1：500 - 1：2000 IF 1：10 - 1：100
Gene_ID（human）：2582
Swissprot：Q14376
Isotype：IgG
Research Areas：Cancer, Metabolism, Signal transduction
