Anti-GALE monoclonal antibody Made to order

Antibody Isotype

IgG

Species Reactivity

Mouse; Rat; Human

Immunogen

A synthetic peptide of human GALE is used for rabbit immunization.

Conjugate

Alternative Names

GALE; UDP-galactose-4-epimerase; galactose 4 epimerase, UDP; UDP-glucose 4-epimerase; SDR1E1; short chain dehydrogenase/reductase family 1E; member 1; UDP glucose 4 epimerase; galactowaldenase; UDP-galactose 4-epimerase; UDP galactose-4-epimerase; galacto

Entrez Gene ID

UniProt ID

Antigen Description

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.

Pathway

Amino sugar and nucleotide sugar metabolism, organism-specific biosystem; Amino sugar and nucleotide sugar metabolism, conserved biosystem; Galactose catabolism, organism-specific biosystem; Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem.