This entry includes cytoplasmic dynein 2 light intermediate chain 1 (DYNC2LI1), which is required for correct intraflagellar transport and the bi-directional movement of components required for the assembly, maintenance and functioning of primary cilia [, , ]. DYNC2LI1 is a component of and stabilizes the dynein-2 complex, which is important for left-right axis determination during embryonic development []. Mutations in the DYNC2LI1 gene cause cause short rib polydactyly syndrome, an autosomal recessive, perinatal lethal skeletal disorder characterized by short, horizontal ribs, short limbs and polydactyly [].
