PEX14

peroxisomal biogenesis factor 14

Ensembl:: ENSG00000142655
UniProt:: O75381
OMIM:: 601791

Cilia effects upon perturbation of PEX14

Ciliogenesis screen results (4 screens)

Kim2016: No effect
Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.92) 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:: preweaning lethality; complete penetrance

Subcellular localization

cilia associated gene, nucleoli fibrillar center, peroxisome

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).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.