PDE6C

phosphodiesterase 6C

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000095464
UniProt:: P51160
OMIM:: 600827
Synonyms:: ACHM5, COD4, PDEA2

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

References: PMID:19615668

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).

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