GALE Rabbit Polyclonal Antibody

CAT#: TA376462

GALE Rabbit polyclonal Antibody

Specifications

Product Data

• Applications: IHC, WB
• Recommended Dilution: WB,1:500 - 1:2000
  IHC,1:50 - 1:200
• Reactivities: Human, Mouse, Rat
• Modifications: Unmodified
• Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: Recombinant fusion protein containing a sequence corresponding to amino acids 129-348 of human GALE (NP_001121093.1).
• Formulation: Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
• Concentration: lot specific
• Purification: Affinity purification
• Conjugation: Unconjugated
• Stability: Shelf life: one year from despatch.
• Predicted Protein Size: 30kDa/38kDa
• Gene Name: UDP-galactose-4-epimerase
• Database Link:
  Entrez Gene 2582 Human
  UniProt ID Q14376
• 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 mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified.