C19orf12 Antibody, HRP conjugated
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中文名稱：C19orf12兔多克隆抗體, HRP偶聯
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貨號：CSB-PA003434LB01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) C19orf12 Polyclonal antibody
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Uniprot No.：
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基因名：C19orf12
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別名：C19orf12; Protein C19orf12
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Protein C19orf12 protein (65-104AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：HRP
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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基因功能參考文獻：
- This study showed that C19orf19 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
- This study shown neurodegeneration associated with mutations in C19orf12 in the periventricular region. PMID: 28347614
- The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with mitochondrial membrane protein associated neurodegeneration. PMID: 28347615
- Its mutations are not found in Iranian Parkinson's disease patients. PMID: 28365006
- Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
- Two Turkish sisters with Behr syndrome with homozygous C19ORF12 mutation PMID: 26187298
- In several families with neurodegeneration with brain iron accumulation, novel mutations were found in the C19orf12 gene. PMID: 25962551
- Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. PMID: 23857908
- Subsequent testing detected compound heterozygous mutations in c19orf12 consistent with mitochondrial membrane protein-associated neurodegeneration PMID: 23494994
- Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. PMID: 22584950
- Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation. PMID: 22691760
- This study identified 3 patients carrying novel mutations in the C19orf12 gene in patients with neurodegeneration with brain iron accumulation. PMID: 22704260
- orphan mitochondrial protein c19orf12 absence causes a distinct clinical subtype of neurodegeneration with brain iron accumulation PMID: 21981780
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相關疾病：Neurodegeneration with brain iron accumulation 4 (NBIA4); Spastic paraplegia 43, autosomal recessive (SPG43)
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亞細胞定位：Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol.
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數據庫鏈接：
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