InterPro domain: IPR030791

Rotatin (RTTN) is a centriolar protein that appears to be required for cilia function [ 1 ]. Mouse RTTN is required for embryonic axial rotation, and left-right specification. It is essential for the correct expression of the key left-right specification genes nodal, lefty and Pitx2 [ 2 ]. The Drosophila homologue of rotatin, Anastral spindle 3 (Ana3), is needed for structural integrity of centrioles and basal bodies [ 3 ]. Rotatin colocalises with the basal bodies at the primary cilium, and has a role in cilia structure and function [ 3 ]. Mutations in RTTN have been identified in individuals with polymicrogyria, a malformation of the developing cerebral cortex [ 4 ].

1. Ana3 is a conserved protein required for the structural integrity of centrioles and basal bodies. J. Cell Biol. 187, 355-63
2. Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos. Mech. Dev. 113, 15-28
3. RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am. J. Hum. Genet. 91, 533-40