1-832-868-1888
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Catalog Number: |
39031 |
| other_names: | SDR1E1; |
Amount: |
100μg |
| calculated_mw: | |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#: Q14376 |
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. |
Storage/Stability: |
|
Immunogen: |
Recombinant protein of human GALE. |
Purification: |
Antibodies were purified by affinity purification using immunogen. |
Specificity/Sensitivity: |
The antibody detects endogenous level of total GALE antibody. |
Applications: |
WB,IHC,IF |
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. |
References: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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