CCDC78


Description

The CCDC78 (coiled-coil domain containing 78) is a protein-coding gene located on chromosome 16.

CCDC78, also known as C16orf25, FLJ34512, CNM4, and JFP10, is a protein encoded by the CCDC78 gene located on chromosome 16. The gene spans 10,892 base pairs and encodes a protein of 438 amino acids with a molecular weight of approximately 4.852 kDa. CCDC78 is ubiquitously expressed at moderate levels and has several isoforms, including one associated with a unique congenital myopathy. While no paralogs exist, several orthologs have been identified. The precise function of CCDC78 remains unknown, but evidence suggests its involvement in skeletal muscle contraction.

CCDC78 is a component of the deuterosome, a structure that promotes the formation of new centrioles in multiciliated cells, which can produce over 100 centrioles. This process, known as deuterosome-mediated centriole amplification, takes place in fully differentiated multiciliated cells during the G1/0 phase of the cell cycle, not during the S phase. CCDC78 is crucial for this centriole amplification and is required for the proper localization of the protein CEP152 to the deuterosome.

CCDC78 is also known as C16orf25, CNM4, JFP10, hsCCDC78.

Associated Diseases


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