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GALE is 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.
Gene Name: | UDP-galactose-4-epimerase |
Synonyms: | GALE, Galactowaldenase, Galactose-4-epimerase, UDP-, UDP-glucose 4-epimerase, SDR1E1, UDP galactose-4-epimerase, UDP-galactose 4-epimerase, UDP-galactose-4-epimerase |
Target Sequences: | NM_000403 NP_000394.2 Q14376 |
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