🧬 基因注释：CCDC40
📝 官方信息
官方名称：coiled-coil domain 40 molecular ruler complex subunit
功能摘要：This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].
🎯 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