CFAP45

cilia and flagella associated protein 45

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000213085
UniProt:
Q9UL16
OMIM:
605152
Synonyms:
CCDC19, NESG1

Cilia effects upon perturbation of CFAP45

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (1 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
heterotaxy, visceral, 9, autosomal, with male infertility

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus

References: PMID:33139725

Subcellular localization

basal body, nucleus, transition zone

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:37172641

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion
  • Transition zone

Function

CFAP45 has localized in basal body, transition zone.