CFAP43

cilia and flagella associated protein 43

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000197748
UniProt:: Q8NDM7
OMIM:: 617558
Synonyms:: BA373N18.2, C10ORF79, FLJ22944, FLJ36006, WDR96

Ciliogenesis screen results (1 screens)

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

Phenotypes

Human ciliopathy phenotype:: normal pressure hydrocephalus

Ciliopathy associations

Male Infertility

References: PMID:29449551, PMID:28552195

Subcellular localization

cilia

References: PMID:31884020, PMID:28552195

Functional category

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

Function

Formation of flagellar axonemes during spermatogenesis. Contains WD repeat domains, which are highly enriched in the intraflagellar transport proteins of sperm flagella (28552195). Essential for beating, but not rotating left-right organiser (LRO) or immotile cilia. Involved in the regulation of the beating frequency of tracheal cilia (31884020)

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