ALG6 Antibody
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货号:CSB-PA782102
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规格:¥1100
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图片:
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其他:
产品详情
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Uniprot No.:Q9Y672
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基因名:ALG6
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别名:ALG6 antibody; My046 antibody; Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase antibody; EC 2.4.1.267 antibody; Asparagine-linked glycosylation protein 6 homolog antibody; Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase antibody; Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase antibody
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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:Synthetic peptide of Human ALG6
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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:Antigen affinity purification
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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:-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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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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推荐稀释比:
Application Recommended Dilution ELISA 1:1000-1:2000 WB 1:200-1:1000 -
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:Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
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基因功能参考文献:
- ALG6-CDG has been now described in 89 patients. PMID: 27287710
- Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A). PMID: 21899441
- A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. PMID: 11875054
- Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation. PMID: 16321363
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相关疾病:Congenital disorder of glycosylation 1C (CDG1C)
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亚细胞定位:Endoplasmic reticulum membrane; Multi-pass membrane protein.
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蛋白家族:ALG6/ALG8 glucosyltransferase family
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数据库链接:
HGNC: 23157
OMIM: 603147
KEGG: hsa:29929
STRING: 9606.ENSP00000360149
UniGene: Hs.258501
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