CERKL

CERK like autophagy regulator

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000188452
UniProt:
Q49MI3
OMIM:
608381
Synonyms:
RP26

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 26; cone-rod dystrophy

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:14681825, PMID:36232896

Subcellular localization

cilia, nucleus

References: PMID:29180514

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Cerkl localized to axonemes (29180514).