菜单 基因医生

真核细胞骨架的微管具有多种功能，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是微管蛋白超家族的一部分，该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，在种间和种间高度保守。该基因是一个α-微管蛋白基因，编码一种与小鼠睾丸特异性Tuba3和Tuba7基因产物99%相同的蛋白质该基因位于13q11区，与多汗性外胚层发育不良和歌舞伎综合征等遗传病有关[由RefSeq提供，2008年7月]
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of 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 and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]