Rotatin is involved in the maintenance of ciliary basal bodies. Mutations in rotatin result in fewer, abnormally short cilia, with bulbous tips and multiple basal bodies.

Nov 14, 2025 · RTTN (Rotatin) is a Protein Coding gene. Diseases associated with RTTN include Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures and Bilateral …

Apr 1, 2002 · Rotatin is a novel player in the L–R specification cascade in the mouse, and represents a genetic link between the processes of axial rotation and those leading to organ …

In embryonic mouse brain, rotatin localized in the upper cortical layers and the marginal zone of the developing mouse cortex with a posterior-to-anterior gradient, similar to migrating Cajal …

Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube …

Rotatin is a centrosomal protein possibly involved in centriolar elongation and ciliogenesis.

Mar 29, 2019 · In this issue of Brain, Vandervore et al. (2019) thoroughly examine the clinical phenotypes that result from autosomal recessive (homozygous or compound heterozygous) …

Rotatin encodes a protein that is localized at the ciliary basal bodies in human fibroblast cells. While the exact function of Rotatin is yet to be elucidated, it is predicted to play a key role in …

A gene required for axial rotation and left–right specification in mouse embryos that encodes a transmembrane protein. The human homologue (2226 aa) has now been identified.

Mar 16, 2019 · Rotatin is a centrosomal protein possibly involved in centriolar elongation and ciliogenesis. However, the function of rotatin in brain development is largely unknown and the …