DYNC2I2
Description
The DYNC2I2 (dynein 2 intermediate chain 2) is a protein-coding gene located on chromosome 9.
DYNC2I2 is a component of the cytoplasmic dynein 2 complex, a motor protein complex involved in the movement of cargo along microtubules in cilia and flagella. This complex works in conjunction with the intraflagellar transport (IFT) system. DYNC2I2 plays a significant role in retrograde ciliary protein trafficking, the process of moving proteins back towards the cell body, and in ciliogenesis, the formation of cilia. It is also crucial for maintaining a functional transition zone, a structure that connects the ciliary base to the cell body.
DYNC2I2 is also known as CFAP133, DIC5, FAP133, SRTD11, WDR34, bA216B9.3.
Associated Diseases
- Jeune syndrome
- Short-Rib thoracic dysplasia 11 with or without polydactyly
- Short rib-polydactyly syndrome, Verma-Naumoff type
