ANO3 Antibody
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中文名称:ANO3兔多克隆抗体
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货号:CSB-PA001814GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9BYT9
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基因名:ANO3
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别名:ANO3 antibody; C11orf25 antibody; TMEM16C antibody; GENX-3947Anoctamin-3 antibody; Transmembrane protein 16C 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 ANO3
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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 0.02% 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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功能:Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity. Does not exhibit calcium-activated chloride channel (CaCC) activity.
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基因功能参考文献:
- Study reports a novel c.1969G>A mutation in the ANO3 gene in a family presenting with a typical dystonia phenotype consistent with previous reports: onset mainly after the fourth decade, begins as cervical dystonia, but evolves to segmental dystonia, without leg involvement or any generalized dystonia. PMID: 27392807
- This study demonstrated that whole-exome sequencing show reveled ANO3 mutation with early-onset generalized dystonia. PMID: 27666935
- HTRA2 and ANO3 mutations are not common causes of essential tremor PMID: 27881096
- This study demonstrated that Mutations in ANO3 may cause Dystonia. PMID: 25847575
- rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity. PMID: 23872594
- ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks PMID: 24442708
- Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in primary torsion dystonia pathogenesis. PMID: 24151159
- Our findings indicate that rare exonic variants in ANO3 do not play a major role in the development of essentail tremor PMID: 24094724
- Mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. PMID: 23200863
- The significant single nucleotide polymorphisms are located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes. PMID: 22657408
- C11orf25, FLJ10261 (ORAOV2), C12orf3 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm. PMID: 12739008
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相关疾病:Dystonia 24 (DYT24)
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亚细胞定位:Cell membrane; Multi-pass membrane protein.
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蛋白家族:Anoctamin family
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组织特异性:Highly expressed in the forebrain striatum.
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数据库链接:
HGNC: 14004
OMIM: 610110
KEGG: hsa:63982
STRING: 9606.ENSP00000256737
UniGene: Hs.577269
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