GALE antibody [N2C3]

GeneTex

GALE antibody [N2C3]

9

Research Use Only

0.58 mg/ml

IgG

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]

2°C to 8°C,-20°C

12352203