該基因編碼β-微管蛋白家族的一個III類成員。β微管蛋白是兩個核心蛋白家族(α和β微管蛋白)之一,它們異二聚體化并聚集形成微管。這種蛋白主要在神經元中表達,可能參與神經發生和軸突的引導和維持。該基因突變是導致3型眼外肌先天性纖維化的原因。交替剪接導致多個轉錄變體。該基因的一個假基因在6號染色體上被發現。
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.