CLXN

calaxin

Ensembl:
ENSG00000034239
UniProt:
Q9HAE3
OMIM:
619564
Synonyms:
EFCAB1, FLJ11767, ODAD5

Cilia effects upon perturbation of CLXN

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • 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鈥檚 vesicle cilia, although the 9 + 2 axonemal structure appears to remain normal(31240264)., CLXN is an outer dynein arm-docking complex鈥揳ssociated component. CLXN functions as an ODA-DC subunit in human respiratory cilia especially involved in the docking of distal type 2 ODAs(36727596).

Model organism evidence

Mus musculus (1 reference)

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

PMIDs: 36727596