PEX6

Cilia effects upon perturbation of PEX6

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased mean corpuscular hemoglobin concentration; abnormal embryo size; preweaning lethality; complete penetrance; abnormal cornea morphology; abnormal iris morphology; impaired pupillary reflex

Mouse ciliopathy phenotype:

microphthalmia

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene, cytosol, golgi apparatus

Functional category

• Non-motile cilium / primary cilium

Function

Pex6 localizes to the apical extensions of secretory ameloblasts and differentiated odontoblasts at early stages of dentin synthesis in mice, and to cilia of retinal photoreceptor cells. We propose PEX6, and possibly other peroxisomal genes, as candidate for the rare cooccurrence of deafblindness and enamel dysplasia. By analyzing the PEX6-centrin-3 costaining in merged images, we were able to allocate this localization to the ciliary region of photoreceptor cells. The photosensitive outer segment of photoreceptor cells is a highly modified primary cilium harboring all characteristic ciliary subcompartments, namely, the daughter and the mother centriole (basal body), the connecting cilium (transition zone), and the axoneme projecting into the disk compartment of the outer segment [PMID: PMID: 26593283,17953396].