UniProt ID: Q56A40 |
FUNCTION: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with ccdc39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella. {ECO:0000250|UniProtKB:A8IQT2, ECO:0000250|UniProtKB:Q4G0X9}. SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BI79}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8BI79}. Note=Localizes to cytoplasm and motile cilium. {ECO:0000250|UniProtKB:Q8BI79}. TISSUE SPECIFICITY: Expressed in tissues that contain motile cilia, including Kupffer's vesicle, the floorplate, the pronephric tubules and the otic vesicle. {ECO:0000269|PubMed:21131972}. DISRUPTION PHENOTYPE: Defects are the cause of the lok phenotype, a phenotype related to primary ciliary dyskinesia (PCD). PCD is characterized by curly-tail down phenotype, laterality defects and pronephric cysts, but without defects in sensory cilia and without the presence of hydrocephalus. {ECO:0000269|PubMed:21131972}. SIMILARITY: Belongs to the CCDC40 family. {ECO:0000305}. |
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