CCDC78

coiled-coil domain containing 78

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000162004
UniProt:: A2IDD5
OMIM:: 614666
Synonyms:: C16ORF25, FLJ34512

Cilia effects upon perturbation of CCDC78

Cilia number / % ciliated:: No effect
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

basal body, centrosome

References: PMID:24075808, PMID:40027778, PMID:41423487

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Cardiac & muscle development
Muscle contraction & physiology

Function

Centriole amplification mediated by deuterosome in multi-ciliated cells. Recruitment of Cep152 to the deuterosome required for centriole biogenesis (PMID: 24075808). Ccdc78 KD severely reduced the length of MCC cilia (40027778 ,24075808). CCDC78 occupies the extreme distal tip of vertebrate MCC cilia; required for normal organization of all other tip proteins. Loss elicits distinct pattern of defective cilia beating and resultant fluid flow. Required for normal length regulation.

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