CFAP20DC

CFAP20 domain containing

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000163689
UniProt:: Q6ZVT6
Synonyms:: C3ORF67, FLJ42117, FLJ42930

Phenotypes

Mouse phenotype:: increased leukocyte cell number, decreased heart weight

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:42853647

Subcellular localization

cilia

References: PMID:25139857

Functional category

Ciliary assembly/disassembly

Function

CFAP20DC (C6H3orf67),Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857). Biallelic CFAP20DC variants cause primary ciliary dyskinesia with abnormal mucociliary clearance (PMID 42853647).

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