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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