NALCN

sodium leak channel, non-selective

Ensembl:
ENSG00000102452
UniProt:
Q8IZF0
OMIM:
611549
Synonyms:
BA430M15.1, CANION, VGCNL1

Cilia effects upon perturbation of NALCN

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.26) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, spi bifida, increased red blood cell distribution width, increased neutrophil cell number, hemorrhage, abnormal spleen morphology, enlarged spleen
Mouse ciliopathy phenotype:
abnormal kidney morphology
Human ciliopathy phenotype:
congenital contractures of the limbs and face, hypotonia, and developmental delay

Subcellular localization

cilia

Functional category

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

Function

LCN has localized in cilia.