CWH43

cell wall biogenesis 43 C-terminal homolog

Ensembl:
ENSG00000109182
UniProt:
Q9H720
OMIM:
618561
Synonyms:
CWH43-C, FLJ21511, PGAP2IP

Cilia effects upon perturbation of CWH43

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.78) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=0.91) PMID:37771269

Phenotypes

Mouse phenotype:
abnormal locomotor behavior

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Protein processing & maturation

Function

Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419). Decreased numbers of ependymal cilia.

Model organism evidence

Mus musculus (2 references)

Mice homozygous for an iNPH-associated AK9 mutation displayed normal cilia structure and number, but decreased cilia motility and beat frequency, communicating hydrocephalus, and balance impairment.

Mice heterozygous for CWH43 deletion appeared grossly normal but displayed hydrocephalus, gait and balance abnormalities, decreased numbers of ependymal cilia, and decreased localization of glycosylphosphatidylinositol-anchored proteins to the apical surfaces of choroid plexus and ependymal cell

PMIDs: 38100419, 33459505