D2HGDH蛋白抗体

报价:¥1650
供货周期: 现货
品牌: CST
型号: g/mg
货号: hz-14187R
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产品详情

英文名称    D2HGDH    

中文名称    D2HGDH蛋白抗体    

别    名    D-2-hydroxyglutarate dehydrogenase; D-2-hydroxyglutarate dehydrogenase, mitochondrial; D2HGD; D2HDH_HUMAN; D2hgdh.    

说 明 书    0.1ml  0.2ml      

研究领域    细胞生物  信号转导  新陈代谢      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human, Mouse, Rat, Rabbit,     

产品应用    WB=1:100-500 ELISA=1:500-1000 IP=1:20-100 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 D2HGDH蛋白抗体(石蜡切片需做抗原修复) 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.    

分 子 量    56kDa    

性    状    Lyophilized or Liquid    

浓    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human D2HGDH    

亚    型    IgG    

纯化方法    affinity purified by Protein A    

储 存 液    Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4    

保存条件    Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.    

D2HGDH蛋白抗体产品介绍    background:

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

Function:
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. Disease: Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]. D2HGA1 is a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Contains 1 FAD-binding PCMH-type domain. 

Gene ID:
728294

Database links:

Entrez Gene: 728294 Human

Omim: 609186 Human

SwissProt: Q8N465 Human

Unigene: 516813 Human

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