LMX1B

LIM homeobox transcription factor 1 beta

Ensembl:
ENSG00000136944
UniProt:
O60663
OMIM:
602575
Synonyms:
NPS1

Cilia effects upon perturbation of LMX1B

Ciliogenesis screen results (6 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.98) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=-0.35) PMID:37771269
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.26, ciliated=54.9%) PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.63) PMID:20393562

Phenotypes

Human ciliopathy phenotype:
nail-patella-like renal disease

Subcellular localization

nucleoplasm

Function

Mutations in LMX1B cause Lowe Oculocerebrorenal Syndrome (PMID: 34195159).