VMA21 Antibody
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货号:CSB-PA025866GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q3ZAQ7
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基因名:VMA21
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别名:VMA21; MEAX; XMEA; Vacuolar ATPase assembly integral membrane protein VMA21; Myopathy with excessive autophagy protein
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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 VMA21
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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:Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.
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基因功能参考文献:
- A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation. PMID: 23850239
- This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy. PMID: 23315026
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相关疾病:Myopathy, X-linked, with excessive autophagy (MEAX)
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亚细胞定位:Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein.
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蛋白家族:VMA21 family
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数据库链接:
HGNC: 22082
OMIM: 300913
KEGG: hsa:203547
STRING: 9606.ENSP00000333255
UniGene: Hs.58633
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