C19orf12 Antibody
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货号:CSB-PA003434LA01HU
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规格:¥440
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促销:
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图片:
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Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA003434LA01HU at dilution of 1:100
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Immunohistochemistry of paraffin-embedded human ovarian cancer using CSB-PA003434LA01HU at dilution of 1:100
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Immunofluorescence staining of MCF-7 cells with CSB-PA003434LA01HU at 1:166, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) C19orf12 Polyclonal antibody
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Uniprot No.:Q9NSK7
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基因名:C19orf12
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别名:C19orf12; Protein C19orf12
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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 Protein C19orf12 protein (65-104AA)
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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,C19orf12 Antibody (CSB-PA003434LA01HU),的标记方式是Non-conjugated。对于C19orf12 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.
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靶点详情
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基因功能参考文献:
- 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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相关疾病:Neurodegeneration with brain iron accumulation 4 (NBIA4); Spastic paraplegia 43, autosomal recessive (SPG43)
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亚细胞定位:Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol.
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数据库链接:
HGNC: 25443
OMIM: 614297
KEGG: hsa:83636
STRING: 9606.ENSP00000376103
UniGene: Hs.529094
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