CC2D2A
Description
The CC2D2A (coiled-coil and C2 domain containing 2A) is a protein-coding gene located on chromosome 4.
The CC2D2A gene in humans encodes a protein with coiled-coil and calcium binding domains that plays a critical role in cilia formation. Mutations in this gene are linked to Meckel syndrome and Joubert syndrome.
CC2D2A is part of the tectonic-like complex, which resides in the transition zone of primary cilia. This complex acts as a barrier, preventing the movement of transmembrane proteins between the cilia and cell membranes. CC2D2A is crucial for ciliogenesis and the signaling pathway of sonic hedgehog (SHH).
CC2D2A is also known as COACH2, JBTS9, MKS6, RP93.
Associated Diseases
- Retinitis pigmentosa 93
- Joubert syndrome with hepatic defect
- Coach syndrome 2
- Joubert syndrome with oculorenal defect
- Meckel syndrome
- Meckel syndrome, type 6
- Joubert syndrome 9
- Retinitis pigmentosa
