RTTN
Description
The RTTN (rotatin) is a protein-coding gene located on chromosome 18.
Rotatin is a protein encoded by the RTTN gene in humans. It plays a crucial role in maintaining cellular cilia and guiding the radial migration of neurons in the cerebral cortex. Rotatin is involved in maintaining ciliary basal bodies, and mutations in the gene lead to shorter, fewer cilia with abnormal tips and multiple basal bodies. Additionally, Rotatin plays a role in the radial migration of neurons in the cerebral cortex, localizing in areas similar to the migration-guiding Cajal–Retzius cells. It also contributes to the arrangement of heart loops during development. Mutations in both copies of the RTTN gene result in a syndrome characterized by microcephaly, short stature, and polymicrogyria, with or without seizures. The gene was first identified in 2002 and named for its role in the axial migration of heart loop development.
Rotatin is involved in the genetic cascade that governs left-right specification. It plays a role in the maintenance of a normal ciliary structure. Rotatin is required for correct asymmetric expression of NODAL, LEFTY, and PITX2.
RTTN is also known as MSSP.
Associated Diseases
- Microcephaly, short stature, and polymicrogyria with or without seizures
- Microcephalic cortical malformations-short stature due to RTTN deficiency
