庫存單位: E-AB-53584_60μL-ES

ATXN7 多株抗體,60 μL

常染色體顯性小腦性共濟失調 (ADCA) 是一組異質性神經退化性疾病,其特徵是小腦、腦幹和脊髓的進行性退化。臨床上,ADCA 分為三類:ADCA I 型至 III 型。 ADCAI 在遺傳上是異質性的,具有五個基因位點,分別指定為脊髓小腦性共濟失調 (SCA) 1、2、3、4 和 6,被分配到五個不同的染色體上。 ADCAII 總是表現為​​視網膜變性(SCA7),而 ADCAIII 通常被稱為「純」小腦症候群(SCA5),它們很可能是同質性疾病。已克隆了幾種 SCA 基因,並顯示其編碼區含有 CAG 重複序列。 ADCA 是由 CAG 重複序列的擴展引起的,從而在相應蛋白質中產生了延長的聚谷氨酰胺束。擴展的重複序列大小可變且不穩定,通常在傳遞到後代時其大小會增加。此基因座已定位於 3 號染色體上,並已確定與脊髓小腦性共濟失調-7 相關的患病等位基因含有 38-130 個 CAG 重複序列(靠近 N 端),而正常等位基因中則含有 7-17 個。編碼的蛋白質是 SPT3/TAF9/GCN5 乙醯轉移酶 (STAGA) 和無 TBP 的含 TAF (TFTC) 染色質重塑複合物的組成部分,因此在轉錄調控中發揮作用。可變剪接產生多種轉錄變異。

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Product Specification

Basic Information

Brands:Elabscience

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Place of Origin:中國

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Shipping:產品隨附冰袋,收到後,請立即在建議的溫度下存放。

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Concentration:0.9 毫克/毫升

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Shelf Life:12個月

Storage:儲存於-20°C,有效期限為12個月。避免凍融循環。

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Dilution:免疫組化 1:50-1:300

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Application:免疫組織化學

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Research Areas:癌症;神經科學

Species Reactivity:人;小鼠

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Buffer:含 0.05% NaN3 和 40% 甘油的 PBS,pH7.4

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