CEP55

Cilia effects upon perturbation of CEP55

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance, preweaning lethality, complete penetrance, abnormal ovary morphology, small uterus

Human ciliopathy phenotype:

multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

Ciliopathy associations

• MARCH Syndrome
• Meckel-Gruber Syndrome

References: PMID:28264986, PMID:28295209, PMID:33475699

Subcellular localization

basal body, centrosome, transition zone, cilia

References: PMID:41005307

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Transition zone

Function

CEP55 has localized in basal body, transition zone.