Recombinant Human Adenosine deaminase CECR1 (CECR1), partial

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Stock}

貨號：

CSB-EP878938HU1
說明書：

MSDS Datasheet
規格：

￥1536
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
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靶點詳情

產品詳情

純度：

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

CECR1
Uniprot No.：

Q9NZK5
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

57.5 kDa
表達區域：

254-453aa
氨基酸序列

ELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSY
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-GST-tagged and C-terminal Myc-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

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

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.
貨期：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

功能：

Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.
基因功能參考文獻：
1. Adenosine deaminase type 2 deficiency with a homozygous premature stop codon masquerading as GATA2 deficiency: successful haploidentical sibling hematopoietic stem cell transplantation. PMID: 27130863
2. Deficiency of ADA2 causes IgA-IgG antibody deficiencies in a family. PMID: 26922074
3. High CECR1 activity is associated with brain tumor. PMID: 28453746
4. Data show that 2 patients required a second transplant for engraftment failure were discovered to carry the deleterious ADA2 adenosine deaminase (CECR1) mutations and be ADA2 deficient. PMID: 28974505
5. CECR1 function in (M2-like) macrophages mediates cross talk between macrophages and pericytes in GBM via paracrine PDGFB-PDGFRbeta signaling, promoting pericyte recruitment and migration, and tumor angiogenesis. PMID: 28534507
6. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever PMID: 27362340
7. Findings indicate that ADA2 deficiency presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for ADA2 deficiency. PMID: 28493328
8. The clinical manifestations of adenosine deaminase 2 deficiency ranged in severity from limited cutaneous involvement to severe multisystemic vasculitis; one-third of our cases (5 of 15) were currently asymptomatic, and required close monitoring. We recommend CECR1 screening for unaffected siblings of index cases, cases of familial vasculitis, and cases of PAN that is resistant to standard treatment PMID: 27059682
9. Deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1. PMID: 27609179
10. IL-17 receptor A and adenosine deaminase 2 deficiency due to deletion mutations was found in siblings with chronic mucocutaneous candidiasis and chronic systemic inflammation. PMID: 26607704
11. This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation in CECR1. PMID: 26867732
12. Ectopic expression of miR-146b-3p suppressed ADA2 expression, activity, and TNF-alpha release in the AGA-treated human macrophages PMID: 25815338
13. In patients with unexplained young-onset lacunar stroke accompanied by systemic inflammation and a positive family history suspicious of recessively inherited disease, ADA2 deficiency needs to be considered in the differential diagnosis. PMID: 25888558
14. ADA2 (CECR1) may act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process. PMID: 25278816
15. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1. PMID: 24737293
16. Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis. PMID: 24552284
17. Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression. PMID: 24552285
18. Increased ADA2 expression and activity are identified in human and porcine retinas with diabetes. PMID: 23685153
19. Plasma AD2 may have a role in determining tumour response to treatment. PMID: 22558798
20. The crystal structures of ADA2 and ADA2 bound to a transition state analogue presented here reveal the structural basis of the catalytic/signaling activity of adenosine deaminase growth factor/ADA2 proteins. PMID: 20147294
21. findings show ADA2 is encoded by the CECR1 gene & belongs to novel family of ADA-related growth factors;ADA2 may be active in sites of inflammation during hypoxia & in areas of tumour growth where adenosine is elevated & extracellular pH is acidic PMID: 15926889
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相關疾病：

Polyarteritis nodosa (PAN); Sneddon syndrome (SNDDS)
亞細胞定位：

Secreted.
蛋白家族：

Metallo-dependent hydrolases superfamily, Adenosine and AMP deaminases family, ADGF subfamily
組織特異性：

Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the devel
數據庫鏈接：

HGNC: 1839

OMIM: 182410

KEGG: hsa:51816

STRING: 9606.ENSP00000262607

UniGene: Hs.170310