PDE6C
phosphodiesterase 6C
- Ensembl:
- ENSG00000095464
- UniProt:
- P51160
- OMIM:
- 600827
- Synonyms:
- ACHM5, COD4, PDEA2
Cilia effects upon perturbation of PDE6C
Ciliogenesis screen results (3 screens)
- 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
Ciliopathy associations
- Cone-Rod Dystrophy
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Spectrum of mechanisms of missense PDE6C mutations in achromatopsia including catalytic defects, protein mislocalization, or a specific sequence of proteolytic degradation (25461672).
Model organism evidence
Mus musculus (2 references)
Structural analysis revealed that aged cones in both models displayed degenerative changes, including mislocalized mitochondria and compromised connecting cilia.
Before changes in photoresponse, removal of ARL13B led to mislocalization of rhodopsin, prenylated phosphodiesterase-6 (PDE6), and intraflagellar transport protein-88 (IFT88).