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Protein Coding Gene : Clxn calaxin

Primary Identifier  MGI:1914043 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  66793
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable several functions, including beta-tubulin binding activity; calcium-dependent outer dynein arm binding activity; and dynein heavy chain binding activity. Involved in regulation of flagellated sperm motility. Located in cilium. Is expressed in central nervous system and pancreas trunk epithelium. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Orthologous to human CLXN (calaxin).
PHENOTYPE: Homozygotes for a knock-out allele show partial lethality during fetal growth and development, hydrocephaly, situs inversus, enlarged brain ventricles, cardiac hypertrophy, reduced motility and fluid flows in sperm flagella and epithelial cilia, and defects in nodal cilia formation and motility. [provided by MGI curators]
  • synonyms:
  • MGI:1921909,
  • MGI:7413977,
  • 4930449A16Rik,
  • EF hand calcium binding domain 1,
  • 5430404L10Rik,
  • calaxin,
  • EF-hand calcium binding domain 1,
  • RIKEN cDNA 5430404L10 gene,
  • Clxn,
  • RIKEN cDNA 4930449A16 gene,
  • Efcab1

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