Product Datasheet
GALE antibody
Catalog Number: 39031
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#: Q14376
NCBI Gene ID: 2582
- Form of Antibody:
- Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
- Immunogen:
- Recombinant protein of human GALE.
- reactivity:
- Human,Mouse,Rat
- appl_detail:
- WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:10 - 1:100
- Purification:
- Antibodies were purified by affinity purification using immunogen.
- Specificity:
- The antibody detects endogenous level of total GALE antibody.
- 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.
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