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  • 發布時間:2022-08-23 11:22 原文鏈接: TUBA1A基因編碼的功能和結構描述

    真核細胞骨架的微管具有重要和多樣的功能,由α和β微管蛋白的異二聚體組成。編碼這些微管成分的基因屬于微管蛋白超家族,由六個不同的家族組成。所有真核生物中都有α、β和γ微管蛋白家族的基因。α和β微管蛋白是微管的主要成分,而γ微管蛋白在微管組裝成核過程中起著關鍵作用。有多種α和β-微管蛋白基因,在物種間高度保守。該基因編碼α-微管蛋白,與小鼠和大鼠tuba1基因高度相似。northern雜交研究表明,該基因主要在形態分化的神經細胞中表達。該基因是12q染色體上三個α-微管蛋白基因中的一個。該基因的突變導致3型Lissencephaly(Lis3)——一種以小頭畸形、智力殘疾和因神經元遷移缺陷引起的早發性癲癇為特征的神經疾病。選擇性剪接導致編碼不同亞型的多個轉錄變體。

    Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 

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