NARS2 Antibody
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货号:CSB-PA015460GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q96I59
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基因名:
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别名:NARS2 antibody; Probable asparagine--tRNA ligase antibody; mitochondrial antibody; EC 6.1.1.22 antibody; Asparaginyl-tRNA synthetase antibody; AsnRS antibody
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Human NARS2
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB,IHC
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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基因功能参考文献:
- NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115. PMID: 30088171
- The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. PMID: 28077841
- Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05. PMID: 25649651
- In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2 PMID: 25807530
- A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases. PMID: 25385316
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相关疾病:Combined oxidative phosphorylation deficiency 24 (COXPD24); Leigh syndrome (LS)
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亚细胞定位:Mitochondrion matrix. Mitochondrion.
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蛋白家族:Class-II aminoacyl-tRNA synthetase family
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数据库链接:
HGNC: 26274
OMIM: 256000
KEGG: hsa:79731
STRING: 9606.ENSP00000281038
UniGene: Hs.503389
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