CCDC78 is a component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles []. CCDC78 does not have the kinesin-motor domain. Mutations in CCDC78 genes cause centronuclear myopathy 4 (CNM4), which is a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles [].
This domain is found in proteins from Metazoa. Some proteins also carry kinesin-motor domains at their N terminus ().Proteins containing this domain include the coiled-coil domain-containing protein 78 (CCDC78), which is a component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles []. CCDC78 does not have the kinesin-motor domain. Mutations in CCDC78 genes cause Myopathy, centronuclear, 4 (CNM4), which is a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles [].
