PTS Antibody
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中文名称:PTS兔多克隆抗体
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货号:CSB-PA019073GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q03393
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基因名:PTS
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别名:6 pyruvoyl tetrahydrobiopterin synthase antibody; 6 pyruvoyl tetrahydropterin synthase antibody; 6 pyruvoyltetrahydropterin synthase antibody; 6-pyruvoyl tetrahydrobiopterin synthase antibody; EC 4.2.3.12 antibody; FLJ97081 antibody; OTTHUMP00000235385 antibody; PTP synthase antibody; PTPS antibody; PTPS_HUMAN antibody; PTS 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 PTS
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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.
靶点详情
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功能:Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
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基因功能参考文献:
- Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management. PMID: 19830588
- A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations. PMID: 22237589
- The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype. PMID: 18505119
- Our data show that PTPS induction is necessary for optimized BH4 synthesis in cytokine-stimulated human coronary artery endothelial cells and point to IL-1beta as a leading cytokine in this process. PMID: 14551150
- Hyperphenylalaninemia may be caused by deficiency of Phe hydroxylase or by deficiency of co-factor BH(4). PMID: 16086286
- Human PTS was efficiently expressed in noradrenergic regions but only in a small number of dopaminergic neurons. PMID: 16135092
- Expression of PTS was significantly decreased in PD cases. PMID: 17270157
- mutational analysis in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency PMID: 11438997
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相关疾病:Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)
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蛋白家族:PTPS family
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数据库链接:
HGNC: 9689
OMIM: 261640
KEGG: hsa:5805
STRING: 9606.ENSP00000280362
UniGene: Hs.503860
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