Recombinant Human UDP-glucose 4-epimerase (GALE)

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中文名称：

人GALE重组蛋白
货号：

CSB-EP613499HU
规格：

￥1344
图片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

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纯度：

Greater than 90% as determined by SDS-PAGE.
基因名：

GALE
Uniprot No.：

Q14376
别名：

FLJ95174; FLJ97302; Galactose 4 epimerase UDP; Galactowaldenase; galE; GALE_HUMAN; OTTHUMP00000002991; OTTHUMP00000002994; OTTHUMP00000037931; OTTHUMP00000044857; SDR1E1; short chain dehydrogenase/reductase family 1E member 1; UDP galactose 4 epimerase; UDP galactose 4' epimerase; UDP glucose 4 epimerase; UDP-galactose 4-epimerase; UDP-glucose 4-epimerase
种属：

Homo sapiens (Human)
蛋白长度：

Full Length
来源：

E.coli
分子量：

54.3kDa
表达区域：

1-348aa
氨基酸序列

MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
蛋白标签：

N-terminal 6xHis-SUMO-tagged
产品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
缓冲液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
储存条件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保质期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
货期：

3-7 business days
注意事项：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

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功能：

Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.
基因功能参考文献：
1. Mutation in UDP-galactose-4'-epimerase gene is associated with UDP-galactose-4'-epimerase deficiency. PMID: 26565537
2. Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review] PMID: 26162744
3. human UDP-galactose 4'-epimerase stability is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding PMID: 25150110
4. These data indicated a critical role of GALE in maintaining cartilage homeostasis, and suggested that GALE inhibition might contribute to OA progress. PMID: 25201731
5. GALE variants can be arranged into three groups depending on the severity of enzyme impairment. PMID: 23644136
6. P.K161N-hGALE causes its effects by abolishing an important interaction between the protein and the cofactor. PMID: 22613355
7. study of hGALE crystal structure and demonstration that residue 307 acts as a gatekeeper mediating substrate access to the hGALE active site PMID: 15175331
8. Resulst describe the relationship among UDP-galactose 4'-epimerase activity, substrate specificity, metabolic balance, and galactose sensitivity in mammalian cells. PMID: 15701638
9. Data suggest that reduced catalytic efficiency and increased proteolytic susceptibility of UDP-galactose 4-epimerase are causative factors in type III galactosemia. PMID: 16302980
10. Subtle biochemical and metabolic abnormalities detected in patients expressing these GALE alleles likely reflect, at least in part, the reduced enzymatic activity of the encoded GALE proteins. PMID: 18188677
11. Our observations show that altered protein stability is due to misfolding and that loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia. PMID: 19250319
12. Disease-causing mutations result in a variety of changes to the steady-state parameters. Mostly these are changes in turnover number, kcat. The ability to dimerize is not affected, but some mutants have increased sensitivity to protease digestion. PMID: 16302980
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相关疾病：

Epimerase-deficiency galactosemia (EDG)
蛋白家族：

NAD(P)-dependent epimerase/dehydratase family
数据库链接：

HGNC: 4116

OMIM: 230350

KEGG: hsa:2582

STRING: 9606.ENSP00000363621

UniGene: Hs.632380

Recombinant Human UDP-glucose 4-epimerase (GALE)

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