Coiled-coil domain-containing protein 8
Domain
The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2.
Function
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).
Involvement in disease
3M syndrome 3
3M3
A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
Coiled-coil domain-containing protein 8, CCDC8