UniProt ID: Q6GQN0 |
FUNCTION: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of tubulin polyglutamylases between the basal body and the cilium. {ECO:0000269|PubMed:22246503}. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes mainly to the cilium basal body and in primary cilia. {ECO:0000250}. TISSUE SPECIFICITY: Expressed in various ciliary organs, including Kupffer's vesicle, ear and heart, as well as brain and kidney. {ECO:0000269|PubMed:22246503}. DISRUPTION PHENOTYPE: Embryos display peripheral heart edema and tail defects along with ciliopathy-related phenotypes, including hydrocephalus, abnormal ear otolith formation and smaller eyes. {ECO:0000269|PubMed:22246503}. SIMILARITY: Belongs to the CEP41 family. {ECO:0000305}. |
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