D2HGDH Antibody
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货号:CSB-PA006476GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q8N465
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基因名:D2HGDH
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别名:D2HGDH antibody; D2HGDD-2-hydroxyglutarate dehydrogenase antibody; mitochondrial antibody; EC 1.1.99.- 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 D2HGDH
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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 0.02% 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.
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靶点详情
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功能:Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate. Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC.
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基因功能参考文献:
- D2HGDH-GAL3ST2 is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans. PMID: 27322736
- D2HGDH elevates alpha-KG levels via IDH2 expression modulation, influencing histone and DNA methylation, and HIF1alpha hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert. PMID: 26178471
- D2HGDH mutation is not associated with glioblastoma. PMID: 21625441
- We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours PMID: 20727073
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20727073
- Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). PMID: 16037974
- This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene PMID: 19283509
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相关疾病:D-2-hydroxyglutaric aciduria 1 (D2HGA1)
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亚细胞定位:Mitochondrion.
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蛋白家族:FAD-binding oxidoreductase/transferase type 4 family
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数据库链接:
HGNC: 28358
OMIM: 600721
KEGG: hsa:728294
STRING: 9606.ENSP00000315351
UniGene: Hs.516813
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