這個基因編碼一個大的細胞質動力蛋白，它參與纖毛的逆行運輸，并在鞭毛內運輸中發揮作用，這是纖毛/鞭毛組裝所必需的過程。該基因的突變引起與原發性纖毛功能改變有關的異質性疾病譜，常涉及多指畸形、骨骼發生和多囊腎。選擇性剪接導致編碼不同蛋白質的多個轉錄變體。[由RefSeq提供，2010年1月]
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]