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世界上第一例被记载在案的常染色体隐性遗传病——黑尿症 - 知乎
后来,通过其他科学家的后续研究,进一步确定了黑尿症的致病基因是HGD。 同时也确定了该病的致病机理:该病是由于HGD基因中的突变引起代谢异常,使得高纯尿黑酸和相关化合物沉积,导致软骨和皮肤变黑,同时导致关节炎。 该尿黑酸还会从从尿中排出,当尿暴露在空气中时变黑。 据统计,该病属于罕见遗传病,在世界范围内可能有25万至100万人会受到疾病影响。 参考资料: [1] omim.org. [2] en.wikipedia.org. [3] ghr.nlm.nih.gov. [4] Garrod, ArchibaldE. The incidence of …
RPE250Hu01 | 尿黑酸1,2-双加氧酶 (HGD)重组蛋白 | Homo sapiens …
物种Homo sapiens (Human,人) 相同的名称,不同的物种。 内毒素水平<1.0EU per 1μg (determined by the LAL method). 应用 Positive Control; Immunogen; SDS-PAGE; WB. 如果需要有生物活性的蛋白,请参见 活性蛋白。 欲了解实际交易价格和更多情况,请与当地经销商联系! Figure . Gene Sequencing (extract) Figure. SDS-PAGE. Reconstitute in 20mM Tris, 150mM NaCl (pH8.0) to a concentration of 0.1-1.0 mg/mL. Do not vortex. 避免反复冻融。
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重组Anti-HGD抗体[EPR7874] (ab131035) - Abcam中文官网
Immunohistochemical analysis of paraffin-embedded Human kidney tissue labelling HGD with ab131035 antibody at 1/100 dilution. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
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