CFAP221

cilia and flagella associated protein 221

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000163075
UniProt:: Q4G0U5
OMIM:: 618704
Synonyms:: FAP221, PCDP1

Ciliogenesis screen results (1 screens)

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

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:39362668, PMID:40250778

Subcellular localization

cilia, ciliary tip

References: PMID:41005307, PMID:18039845, PMID:25073043, PMID:31636325, PMID:32704025

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
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)

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