DYNC2I1
Description
The DYNC2I1 (dynein 2 intermediate chain 1) is a protein-coding gene located on chromosome 7.
DYNC2I1 is a non-catalytic component of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex involved in the movement of cargo along microtubules within cilia and flagella. It functions in concert with the intraflagellar transport (IFT) system. DYNC2I1 plays a crucial role in retrograde ciliary protein trafficking within cilia and flagella. Additionally, it is required to maintain a functional transition zone.
DYNC2I1 is also known as CFAP163, DIC6, FAP163, SRPS6, SRTD8, WDR60.
Associated Diseases
- Jeune syndrome
- Short rib-polydactyly syndrome, type VI
- Short rib-polydactyly syndrome, Verma-Naumoff type
