GALE recombinant protein

GALE Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121777

• Gene Names: GALE; SDR1E1
• Purity: >95% as determined by SDS-PAGE
• Synonyms: GALE; GALE Protein; Human; Recombinant (His Tag); Human GALE/UDP galactose-4-epimerase Protein (His Tag); SDR1E1 Protein; UDP-galactose-4-epimerase; GALE recombinant protein

• Host: E Coli
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile 20mM HEPES, 150mM NaCl, 10% Glycerol, pH7.5. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Ala348

• Species: Human
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the mature form of human GALE (Q14376)(Met1-Ala348) was expressed with a polyhistidine tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for GALE recombinant protein

Background: UDP galactose-4'-epimerase, also known as GALE, enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. UDP galactose-4'-epimerase 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. Defects in GALE causes epimerase-deficiency galactosemia (EDG), also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation.

References

Kim W. et al., 2011, Mol Cell. 44 (2): 325-40. Lee KA. et al., 2011,. J Biol Chem. 286 (48): 41530-8. McCorvie TJ. et al., 2012, Biochim Biophys Acta. 1822 (10): 1516-26.

NCBI and Uniprot Product Information

• NCBI GI #: 56237023
• NCBI GeneID: 2582
• NCBI Accession #: NP_000394.2
• NCBI GenBank Nucleotide #: NM_000403.3
• UniProt Accession #: Q14376; Q38G75; Q86W41; Q9BVE3; Q9UJB4; A0A024RAH5; B3KQ39
• Molecular Weight: 30,180 Da
• NCBI Official Full Name: UDP-glucose 4-epimerase
• NCBI Official Synonym Full Names: UDP-galactose-4-epimerase
• NCBI Official Symbol: GALE
• NCBI Official Synonym Symbols: SDR1E1
• NCBI Protein Information: UDP-glucose 4-epimerase; UDP galactose-4'-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-galactose 4-epimerase; galactose-4-epimerase, UDP-; galactowaldenase; shor
• UniProt Protein Name: UDP-glucose 4-epimerase
• Protein Family: Galectin
• UniProt Gene Name: GALE
• UniProt Entry Name: GALE_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2008]

Uniprot Description

GALE: 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. Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG); also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. Belongs to the sugar epimerase family.

Protein type: Isomerase; EC 5.1.3.7; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 5.1.3.2; Carbohydrate Metabolism - galactose

Chromosomal Location of Human Ortholog: 1p36-p35

Cellular Component: cytosol

Molecular Function: UDP-N-acetylglucosamine 4-epimerase activity; protein homodimerization activity; UDP-glucose 4-epimerase activity; coenzyme binding

Biological Process: galactose catabolic process; carbohydrate metabolic process; pathogenesis

Disease: Galactose Epimerase Deficiency