🧬 基因注释：DNAH5
📝 官方信息
官方名称：dynein axonemal heavy chain 5
功能摘要：This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009].
🎯 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