PEX14

peroxisomal biogenesis factor 14

Tier: Cilia-Associated Genes

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

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

nucleoli fibrillar center, peroxisome

References: PMID:32368833

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).

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