PMM1 Antibody
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货号:CSB-PA018237GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q92871
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基因名:PMM1
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别名:Brain glucose-1,6-bisphosphatase antibody; Phosphomannomutase 1 antibody; PMM 1 antibody; pmm1 antibody; PMM1_HUMAN antibody; PMMH 22 antibody; PMMH-22 antibody; PMMH22 antibody; Sec53 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:Human PMM1
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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
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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:Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.
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基因功能参考文献:
- a triple mutant of phospomannomutase1 that retains mutase and phosphatase activity, but is unable to bind inosine monophosphate, was characterized. PMID: 29261720
- Mutations in phosphomannomutase is associated with ophthalmic manifestations of congenital disorder of glycosylation type 1a PMID: 12789572
- human alpha-phosphomannomutase 1 crystallographic structure reveals the structural basis of congenital disorder of glycosylation type 1a PMID: 16540464
- analysis of mental development in a patient with phosphomannomutase deficiency who is compound heterozygous for T237R/C241S mutations [case report] PMID: 17186415
- The genes GUS and PMM1 are recommended for normalization purposes in gene expression studies of liver tissue from patients with chronic hepatitis. PMID: 18591914
- PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain PMID: 18927083
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亚细胞定位:Cytoplasm.
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蛋白家族:Eukaryotic PMM family
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组织特异性:Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.
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数据库链接:
HGNC: 9114
OMIM: 601786
KEGG: hsa:5372
STRING: 9606.ENSP00000216259
UniGene: Hs.75835
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