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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
This product is preservative free. It is recommended to add sodium azide to avoid contamination (final concentration 0.05%-0.1%).
This antibody has specificity for Human UDP galactose-4'-epimerase/GALE.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Galactowaldenase; UDP-galactose 4-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-glucose 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase
基因别名: GALE
Entrez Gene ID: (Human) 2582