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NARS2 Antibody

說明書

產品詳情

Uniprot No.：

Q96I59
基因名：

NARS2
別名：

NARS2 antibody; Probable asparagine--tRNA ligase antibody; mitochondrial antibody; EC 6.1.1.22 antibody; Asparaginyl-tRNA synthetase antibody; AsnRS antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human NARS2
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

基因功能參考文獻：
1. 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
2. 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
3. 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
4. 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
5. 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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相關疾病：

Combined oxidative phosphorylation deficiency 24 (COXPD24); Leigh syndrome (LS)
亞細胞定位：

Mitochondrion matrix. Mitochondrion.
蛋白家族：

Class-II aminoacyl-tRNA synthetase family
數據庫鏈接：

HGNC: 26274

OMIM: 256000

KEGG: hsa:79731

STRING: 9606.ENSP00000281038

UniGene: Hs.503389

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