FMN2 - formin 2 Gene

中文名称：形式 2

种属: Homo sapiens

关于 FMN2

功能概要

该基因是福尔明同源蛋白家族的成员。编码的蛋白质被认为在肌动蛋白细胞骨架的组织和细胞极性中具有重要作用。这种蛋白质介导肌动蛋白网的形成，该网在卵子发生过程中定位纺锤体，还调节细胞核中肌动蛋白丝的形成。这种蛋白质还形成核周肌动蛋白/焦点粘附系统，在细胞迁移过程中调节细胞核的形状和位置。该基因的突变与不育症以及常染色体隐性智力障碍 (MRT47) 相关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供，2017 年 7 月]

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin Cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]