Recombinant Human Adenine phosphoribosyltransferase (APRT)

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中文名称：

Recombinant Human Adenine phosphoribosyltransferase(APRT)
货号：

CSB-EP001954HU
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：

APRT
Uniprot No.：

P07741
别名：

Adenine phosphoribosyltransferase; AMP; AMP diphosphorylase; AMP pyrophosphorylase; APRT; APT_HUMAN; DKFZp686D13177; MGC125856; MGC125857; MGC129961; Transphosphoribosidase
种属：

Homo sapiens (Human)
蛋白长度：

Full Length
来源：

E.coli
分子量：

46.5kDa
表达区域：

1-180aa
氨基酸序列

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

N-terminal GST-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 a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
基因功能参考文献：
1. A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance. PMID: 25735432
2. A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. PMID: 24986359
3. Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals. PMID: 21635362
4. kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients PMID: 14674717
5. determination of structure and examination of role of deficiency in DHA-urolithiasis PMID: 15196008
6. two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency PMID: 15571218
7. APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects). PMID: 17126311
8. Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate. PMID: 18399692
9. The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported. PMID: 19399589
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相关疾病：

Adenine phosphoribosyltransferase deficiency (APRTD)
亚细胞定位：

Cytoplasm.
蛋白家族：

Purine/pyrimidine phosphoribosyltransferase family
数据库链接：

HGNC: 626

OMIM: 102600

KEGG: hsa:353

STRING: 9606.ENSP00000367615

UniGene: Hs.28914

Recombinant Human Adenine phosphoribosyltransferase (APRT)

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