NR1H3

nuclear receptor subfamily 1 group H member 3

Ensembl:
ENSG00000025434
UniProt:
Q13133
OMIM:
602423
Synonyms:
LXR-A, LXRA, RLD-1

Cilia effects upon perturbation of NR1H3

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • 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

Phenotypes

Mouse ciliopathy phenotype:
increased circulating alanine transaminase level; abnormal kidney morphology

Subcellular localization

cytosol, nucleoplasm

Functional category

  • Motile cilium & axoneme

Function

Mutations in NR1H3 cause Simpson-Golabi-Behmel Syndrome (PMID: 36936145).