ROGDI Antibody
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货号:CSB-PA020061GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9GZN7
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基因名:ROGDI
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别名:FLJ22386 antibody; KTZS antibody; Leucine zipper domain protein antibody; Protein rogdi homolog antibody; rogdi antibody; rogdi homolog (Drosophila) antibody; rogdi, Drosophila, homolog of antibody; ROGDI_HUMAN antibody
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宿主:Rabbit
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反应种属:Human,Mouse
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免疫原:Human ROGDI
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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,IHC
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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:
- We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease. PMID: 23086778
- The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis. PMID: 22424600
- Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals. PMID: 22482807
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相关疾病:Kohlschuetter-Toenz syndrome (KTZS)
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亚细胞定位:Nucleus envelope. Cell junction, synapse, presynapse. Cell projection, axon. Perikaryon. Cell projection, dendrite. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle.
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蛋白家族:Rogdi family
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组织特异性:Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.
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数据库链接:
HGNC: 29478
OMIM: 226750
KEGG: hsa:79641
UniGene: Hs.459795
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