CLXN

Ciliopathy associations

• Primary Ciliary Dyskinesia

References: PMID:36727596

Subcellular localization

cilia

References: PMID:41410385, PMID:42010243, PMID:36727596, PMID:31240264

Functional category

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

Function

Mice with a null mutation in Efcab1, which encodes calaxin, display typical phenotypes of primary ciliary dyskinesia, including hydrocephalus, situs inversus, and abnormal motility of trachea cilia and sperm flagella. The 9 + 2 axonemal structures of epithelial multicilia and sperm flagella are normal, but the formation of 9 + 0 nodal cilia is significantly disrupted. Knockout of calaxin in zebrafish also causes situs inversus due to the irregular ciliary beating of Kupffer’s vesicle cilia, although the 9 + 2 axonemal structure appears to remain normal(31240264)., CLXN is an outer dynein arm-docking complex–associated component. CLXN functions as an ODA-DC subunit in human respiratory cilia especially involved in the docking of distal type 2 ODAs(36727596).