CFAP74

cilia and flagella associated protein 74

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000142609
UniProt:: Q9C0B2
OMIM:: 620187
Synonyms:: C1ORF222, FLJ45476, KIAA1751

Ciliogenesis screen results (1 screens)

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

Phenotypes

Human ciliopathy phenotype:: ciliary dyskinesia, primary, 49, without situs inversus

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:32555313, PMID:39362668

Subcellular localization

cilia

References: PMID:41410385, PMID:42010243, PMID:39362668

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm

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).

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