PRCD

photoreceptor disc component

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000214140
UniProt:
Q00LT1
OMIM:
610598
Synonyms:
RP36

Ciliogenesis screen results (3 screens)

  • Kim2016: Not Reported
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:16938425

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

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

Function

Mutations in the PRCD gene cause Retinitis Pigmentosa (PMID: 16938425).