Dynein, Cytoplasmic 2, Heavy Chain 1 (DYNC2H1)

DYNC2H1 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.The light intermediate chains, with molecular masses of 55 to 59 kD, are unique to cytoplasmic dynein and contain consensus ATPase elements. Both axonemal and cytoplasmic dyneins also contain light chains of 8 to 25 kD.