Clone Name: AT6G10
Light Chain: Kappa
Calculated MW: 38
Form: Liquid
Buffer (with preservative): PBS, 10% Glycerol, 0.02% Sodium azide.
Concentration: 1 mg/ml (Please refer to the vial label for the specific concentration.)
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 cognitive disability, 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, Jul 2008]
Uniprot ID: Q14376
Antigen Species: Human
Immunogen: The clone AT6G10 is derived from hybridization of mouse F2 myeloma cells with spleen cells from BALB/c mice immunized with a recombinant human GALE protein.
Purification: Protein A Purified
Conjugation: Unconjugated
Full Name: UDP-galactose-4-epimerase
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