🧬 基因注释:DNAAF1
📝 官方信息
官方名称:dynein axonemal assembly factor 1
功能摘要:The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].
🏥 关联疾病
该基因暂无关联疾病记录