CEP120
Description
The CEP120 (centrosomal protein 120) is a protein-coding gene located on chromosome 5.
CEP120, also known as coiled-coil domain-containing protein 100, is a protein encoded by the CEP120 gene in humans. It plays a crucial role in linking the nucleus and the centrosome through microtubules. In mice, a similar protein is involved in interkinetic nuclear migration, a characteristic movement pattern of neural progenitors, and neural progenitor self-renewal. Mutations in CEP120 are thought to lead to neurodevelopmental defects.
CEP120 is also known as CCDC100, JBTS31, SRTD13.
Associated Diseases
- Joubert syndrome with ocular defect
- Joubert syndrome 31
- Short-Rib thoracic dysplasia 13 with or without polydactyly
- Joubert syndrome
- Jeune syndrome
