KIZ

Cilia effects upon perturbation of KIZ

Cilia number / % ciliated:

No effect

Loss-of-function effect:

No effect

Ciliogenesis screen results (1 screen)

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

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa 69; retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Interacts with PLK1 in order to protect the centrosome from collapsing during spindle formation in mitosis. KIZ might have a critical role in this trafficking process. Mutations lead to autosomal- recessive Rod-Cone Dystrophy (24680887). We found that 97.4 ± 3.6 % and 96.9 ± 0.9 % of cells were ciliated in controls and patients, respectively, and mean ciliary length was 4.6 ± 0.9 µm (control) versus 4.3 ± 0.1 µm (patient). No significant difference was evident in these parameters. (24680887)