TMEM231 is a gene that produces a protein responsible for maintenance of properly functioning cilia. Cilia are structures in the cell that play essential and diverse roles, including maintaining cellular homeostasis, cell signalling pathways, motility of the cells, and sensory functions. Mutations in TMEM231 cause ciliopathy, or disorders of the cilia, and result in the clinical manifestations described in the Clinical Characteristics section.
TMEM231