| Primary Identifier | IPR039873 | Type | Family |
| Short Name | CCDC78 |
| description | 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 []. |
