CFAP46

cilia and flagella associated protein 46

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000171811
UniProt:
Q8IYW2
OMIM:
618543
Synonyms:
BA288G11.4, BA288G11.5, BB137A17.2, BB137A17.3, C10ORF123, C10ORF124, C10ORF92, C10ORF93, DKFZP434A1721, FLJ25954, TTC40

Ciliogenesis screen results (1 screens)

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

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:39362668

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion

Function

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause C1d-defective PCD with normal body laterality, sal NO production, ciliary ultrastructure and ciliary beating (39362668).