Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

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中文名称：

人DGUOK重组蛋白
货号：

CSB-EP621974HU
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：

DGUOK
Uniprot No.：

Q16854
别名：

DGUOK; DGK; Deoxyguanosine kinase; mitochondrial; dGK; EC 2.7.1.113
种属：

Homo sapiens (Human)
蛋白长度：

Full Length of Mature Protein
来源：

E.coli
分子量：

44.0kDa
表达区域：

40-277
氨基酸序列

RLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL
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：

Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.
基因功能参考文献：
1. DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes. PMID: 28493820
2. rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension PMID: 26874653
3. The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease . PMID: 26773591
4. sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene PMID: 27324545
5. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells PMID: 24940680
6. study expands the spectrum of disorders caused by mutations in DGUOK. PMID: 23043144
7. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure. PMID: 21107780
8. c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency PMID: 19900589
9. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. PMID: 15150663
10. Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity PMID: 12054684
11. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T). PMID: 12210798
12. This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome. PMID: 15883261
13. DGUOK activity may play a crucial role in the phenotype reversal PMID: 17073823
14. DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion. PMID: 17490647
15. 15 different mutations in the DGUOK gene from 9 kindreds, were identified. PMID: 18205204
16. study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency PMID: 19394258
17. a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK PMID: 19502998
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相关疾病：

Mitochondrial DNA depletion syndrome 3 (MTDPS3); Portal hypertension, non-cirrhotic (NCPH); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4)
亚细胞定位：

Mitochondrion.
蛋白家族：

DCK/DGK family
组织特异性：

Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.
数据库链接：

HGNC: 2858

OMIM: 251880

KEGG: hsa:1716

STRING: 9606.ENSP00000264093

UniGene: Hs.469022

Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

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