PEX1

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.05) 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 cardiac muscle contractility; dilated heart left ventricle; preweaning lethality; complete penetrance; decreased heart rate; abnormal liver morphology

Ciliopathy associations

• Retinal Dystrophy/Degeneration

References: PMID:33417209

Subcellular localization

peroxisome

References: PMID:32368833, PMID:28122914

Functional category

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

Function

Skin fibroblasts from ZS patients and PEX1‐ and PEX14‐deficient hTERT‐immortalized human retinal pigment epithelial (hTERT‐RPE1) cells generated using CRISPR/Cas9 technology show a reduced level of cholesterol in the ciliary membranes and dampened Shh signal transduction (PMID: 32368833). Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations (PMID: 33417209). Knockdown of peroxisome biogenesis factor genes (PEX1 or PEX3) partially suppressed ciliogenesis(PMID: 28122914).