CFAP221
cilia and flagella associated protein 221
- Ensembl:
- ENSG00000163075
- UniProt:
- Q4G0U5
- OMIM:
- 618704
- Synonyms:
- FAP221, PCDP1
Cilia effects upon perturbation of CFAP221
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Ciliopathy associations
- Primary Ciliary Dyskinesia
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
Function
Mouse homologue Pcdp1 causes PCD and brain defects in mice when mutated (18039845, 25073043). Interacts with CFAP54 and SPEF2 (32704025). Identified as a cause of PCD in humans in 2020 (31636325)
Model organism evidence
Mus musculus (2 references)
Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects.
Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia.