NRL

neural retina leucine zipper

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000285493
UniProt:
P54845
OMIM:
162080
Synonyms:
D14S46E, NRL-MAF, RP27

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.10) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=145, lfc=-3.24) PMID:30270045

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:10192380, PMID:39766861

Subcellular localization

nucleus

Functional category

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

Function

Mutations in the NRL gene cause Retinitis Pigmentosa (PMID: 10192380).