GPX4
glutathione peroxidase 4
- Ensembl:
- ENSG00000167468
- UniProt:
- P36969
- OMIM:
- 138322
- Synonyms:
- MCSP, PHGPX
Cilia effects upon perturbation of GPX4
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:
- preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, embryonic lethality prior to organogenesis
- Mouse ciliopathy phenotype:
- hydrometra
Ciliopathy associations
- Spondylometaphyseal Dysplasia
Subcellular localization
cilia associated gene, cytosol, mitochondria, nucleus
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the GPX4 gene cause Spondylometaphyseal Dysplasia (PMID: 9556300, PMID:24706940).
Model organism evidence
Mus musculus (2 references)
Photoreceptor cells before undergoing apoptosis (P11) exhibited decreased mitochondrial biomass, decreased number of connecting cilia, as well as disorganized structure of outer segments.
These impairments were accompanied by the structural abnormality, such as a hairpin-like flagella bend at the midpiece and swelling of mitochondria in the spermatozoa.