LARS2 Antibody
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货号:CSB-PA012758GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q15031
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基因名:LARS2
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别名:HLASA antibody; KIAA0028 antibody; LARS 2 antibody; Lars2 antibody; Leucine translase antibody; Leucine tRNA ligase 2 antibody; Leucine tRNA ligase 2 mitocondrial antibody; Leucine tRNA ligase antibody; Leucine--tRNA ligase antibody; Leucyl tRNA synthetase 2 antibody; Leucyl tRNA synthetase 2 mitochondrial antibody; LeuRS antibody; MGC26121 antibody; mtLeuRS antibody; PRLTS4 antibody; Probable leucyl-tRNA synthetase, mitochondrial antibody; SYLM_HUMAN 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 LARS2
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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
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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:
- IARS2 knockdown inhibits proliferation, suppresses colony formation, and causes cell cycle arrest in AGS cells. PMID: 29071539
- ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 PMID: 26970254
- This represents the first independent replication of the involvement of LARS2 mutations in Perrault syndrome, contributing valuable information for the further understanding of this disease PMID: 26657938
- analysis of the CP1 domain in human mitochondrial leucyl-tRNA synthetase PMID: 26272616
- Leucyl tRNA synthetase is able to partially rescue defects caused by mutations in non-cognate itochondrial-tRNAs. PMID: 24413189
- Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. PMID: 23541342
- No evidence to support previous data indicating a role in type 2 diabetes susceptibility in humans with LARS2 single nucleotide polymorphisms PMID: 19847392
- The alteration of aminoacylation tRNA(Leu(UUR)) caused by the A3243G mutation led to mitochondrial translational defects and thereby reduced the aminoacylated efficiencies of tRNA(Leu(UUR)) as well as tRNA(Ala) and tRNA(Met). PMID: 20194621
- Upregulation of LARS2 is a hallmark of 324A>G mutation. The accumulation of 3243A>G mutation in the brain may have a pathophysiologic role in bipolar disorder and schizophrenia. PMID: 15737668
- In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene. PMID: 15919814
- There was investigated whether overexpression of human mitochondrial LeuRS suppressed translation and respiratory chain defects associated with the pathogenic A3243G mutation in human cells. PMID: 18796578
- data indicate that inactivation of LARS2 by both genetic and epigenetic mechanisms may be a common and important event in the carcinogenesis of nasopharyngeal carcinoma PMID: 19129950
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相关疾病:Perrault syndrome 4 (PRLTS4); Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)
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亚细胞定位:Mitochondrion matrix.
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蛋白家族:Class-I aminoacyl-tRNA synthetase family
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组织特异性:Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.
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数据库链接:
HGNC: 17095
OMIM: 604544
KEGG: hsa:23395
STRING: 9606.ENSP00000265537
UniGene: Hs.526975
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