TOR1AIP1 Antibody
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货号:CSB-PA003136
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规格:¥880
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图片:
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其他:
产品详情
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Uniprot No.:Q5JTV8
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基因名:
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别名:TOR1AIP1; LAP1; Torsin-1A-interacting protein 1; Lamin-associated protein 1B; LAP1B
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宿主:Rabbit
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反应种属:Human
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免疫原:Synthesized peptide derived from the Internal region of Human LAP1B.
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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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:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
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产品提供形式:Liquid
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应用范围:WB, ELISA
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推荐稀释比:
Application Recommended Dilution WB 1:500-1:2000 ELISA 1:10000 -
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:Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.
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基因功能参考文献:
- LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis PMID: 28110863
- LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells. PMID: 25323962
- Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis. PMID: 25149450
- study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle PMID: 24856141
- Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59. PMID: 24116158
- Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined PMID: 12061773
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相关疾病:Limb-girdle muscular dystrophy 2Y (LGMD2Y)
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亚细胞定位:Nucleus inner membrane; Single-pass membrane protein.
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蛋白家族:TOR1AIP family
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组织特异性:Expressed in muscle, liver and kidney.
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数据库链接:
HGNC: 29456
OMIM: 614512
KEGG: hsa:26092
STRING: 9606.ENSP00000393292
UniGene: Hs.496459
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