🧬 基因注释:TUBB4A
📝 官方信息
官方名称:tubulin beta 4A class IVa
功能摘要: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. [provided by RefSeq, Jan 2014].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录