C2CD3
Description
The C2CD3 (C2 domain containing 3 centriole elongation regulator) is a protein-coding gene located on chromosome 11.
C2CD3 is a component of the centrioles that plays a key role in regulating centriole elongation, particularly promoting the assembly of the centriolar distal appendage. This appendage serves as an anchor for the cilium and requires C2CD3 for the recruitment of proteins such as CEP83, SCLT1, CEP89, FBF1, and CEP164. C2CD3 is crucial for the formation of the primary cilium, which is essential for the sonic hedgehog (SHH) signaling pathway and the proteolytic processing of GLI3. It has been observed to interact with various proteins, including IFT88, BBS4, PCM1, and OFD1. Interestingly, OFD1 appears to act as a negative regulator of C2CD3.
C2CD3 is also known as OFD14.