GTX67401-PRO
Human GALE protein, His tag
Cannot supply to this region.
- SKU:
- GTX67401-PRO
- Additional Names:
- UDP-galactose-4-epimerase , SDR1E1
- Concentration:
- 0.5 mg/ml
- Physical State:
- Liquid
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Buffer:
- 20mM Tris-HCl, 100mM NaCl, 10% Glycerol, 5mM DTT, 1mM EDTA, no preservatives.
- Immunogen:
- UDP-galactose-4-epimerase
- Species:
- Human
- Uniprot:
- Q14376
- Synonyms:
- epididymis secretory sperm binding protein;galactose-4-epimerase, UDP-;galactowaldenase;SDR1E1;short chain dehydrogenase/reductase family 1E, member 1;UDP galactose-4'-epimerase;UDP-galactose 4-epimerase;UDP-GalNAc 4-epimerase;UDP-GlcNAc 4-epimerase;UDP-glucose 4-epimerase;UDP-N-acetylgalactosamine 4-epimerase;UDP-N-acetylglucosamine 4-epimerase
- Extra Details:
- 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]
- Shipping Conditions:
- Dry Ice