CWH43

cell wall biogenesis 43 C-terminal homolog

Tier: Gold Standard Ciliary Genes

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

References: PMID:38100419

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.