Protein Domain : Coiled-coil domain-containing protein 8 IPR026526

Type	Family
Description	Coiled-coil domain-containing protein 8 (CCDC8) is a widely expressed protein [ ]. It is phosphorylated upon DNA damage, probably by ATM or ATR [, ]. It is a 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 [ , ]. CCDC8 is also required for localization of CUL7 to the centrosome [].Defects in CCDC8 are the cause of 3M syndrome type 3 (3M3), a disorder characterised 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 [ ].
Short Name	Coiled-coil_p8