DYNC2H1 Rabbit pAb

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. Synonyma: ATD3, DHC2, DHC1b, DNCH2, DYH1B, SRTD3, SRPS2B, hdhc11, DYNC2H1