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    發布時間:2022-08-23 11:22 原文鏈接: TUBB4A基因編碼的功能和結構描述

    這個基因編碼β-微管蛋白家族的一個成員β-微管蛋白是兩個核心蛋白家族(α-微管蛋白和β-微管蛋白)中的一個,它們異源二聚并聚集形成微管。該基因突變可導致髓鞘減少性白質營養不良-6和常染色體顯性扭轉肌張力障礙-4交替剪接導致編碼不同亞型的多個轉錄變體。在X染色體上發現了該基因的假基因。

    This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. 

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