Protein Domain : Coiled-coil domain-containing protein 78 IPR039873

Type  Family
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 [].
Short Name  CCDC78

0 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

0 Parent Features

0 Publications

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