TUBA1A

真核细胞骨架的微管具有重要和多样的功能，由α和β微管蛋白的异二聚体组成。编码这些微管成分的基因属于微管蛋白超家族，由六个不同的家族组成。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微管蛋白在微管组装成核过程中起着关键作用。有多种α和β-微管蛋白基因，在物种间高度保守。该基因编码α-微管蛋白，与小鼠和大鼠tuba1基因高度相似。northern杂交研究表明，该基因主要在形态分化的神经细胞中表达。该基因是12q染色体上三个α-微管蛋白基因中的一个。该基因的突变导致3型Lissencephaly（Lis3）——一种以小头畸形、智力残疾和因神经元迁移缺陷引起的早发性癫痫为特征的神经疾病。选择性剪接导致编码不同亚型的多个转录变体。[由RefSeq提供，2017年7月]
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. [provided by RefSeq, Jul 2017]