PRPF6

Cilia effects upon perturbation of PRPF6

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.65) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, abnormal behavior, hyperactivity, decreased circulating glucose level, decreased thigmotaxis, impaired righting response, increased mean corpuscular hemoglobin

Mouse ciliopathy phenotype:

decreased circulating calcium level

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, nucleus

Functional category

• Ciliary assembly/disassembly

Function

Mutated in autosomal domi nt RP type 60. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis (26167768).