RDH12

retinol dehydrogenase 12

Ensembl:
ENSG00000139988
UniProt:
Q96NR8
Synonyms:
FLJ30273, LCA13, RP53, SDR7C2

Cilia effects upon perturbation of RDH12

Ciliogenesis screen results (4 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
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.58) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
Leber congenital amaurosis; retinitis pigmentosa

Ciliopathy associations

  • Leber Congenital Amaurosis
  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene

Functional category

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

Function

Mutations in the RDH12 gene cause Leber Congenital Amaurosis and Retinitis Pigmentosa (PMID: 17197551, 18779497).