LOXHD1 Antibody
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货号:CSB-PA814211LA01HU
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规格:¥440
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促销:
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) LOXHD1 Polyclonal antibody
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Uniprot No.:Q8IVV2
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基因名:LOXHD1
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别名:LOXHD1 antibody; Lipoxygenase homology domain-containing protein 1 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Lipoxygenase homology domain-containing protein 1 protein (1101-1366AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
本页面中的产品,LOXHD1 Antibody (CSB-PA814211LA01HU),的标记方式是Non-conjugated。对于LOXHD1 Antibody,我们还提供其他标记。见下表:
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:>95%, Protein G 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:Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
产品提供形式:Liquid
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应用范围:ELISA, IHC, IF
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推荐稀释比:
Application Recommended Dilution IHC 1:20-1:200 IF 1:50-1:200 -
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.
相关产品
靶点详情
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功能:Involved in hearing. Required for normal function of hair cells in the inner ear.
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基因功能参考文献:
- We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77. PMID: 26973026
- Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss. PMID: 25792669
- s identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. PMID: 22341973
- This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community PMID: 21465660
- A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews PMID: 21465660
- A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified. PMID: 19732867
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相关疾病:Deafness, autosomal recessive, 77 (DFNB77)
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亚细胞定位:Cell projection, stereocilium.
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数据库链接:
HGNC: 26521
OMIM: 613072
KEGG: hsa:125336
STRING: 9606.ENSP00000300591
UniGene: Hs.345877
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