TUBB3
收藏rgd.mcw.edu2025-03-23 收录
下载链接：
https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1347965
下载链接
链接失效反馈官方服务：
资源简介：
This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
本基因编码β-微管蛋白家族的III类成员。β-微管蛋白是构成微管的核心蛋白家族之一（α和β微管蛋白），它们异源二聚并组装形成微管。该蛋白主要在神经元中表达，可能参与神经发生、轴突导向与维持。本基因的突变是先天性眼外肌纤维化的第3型病因。选择性剪接导致多种转录变体。在6号染色体上发现本基因的假基因。[由RefSeq提供，2010年10月]
提供机构：
rgd.mcw.edu
