The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.

@article{Ikeda2005TheMO,
  title={The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.},
  author={Takashi Ikeda and Kazuho Ikeda and Masahiro Enomoto and Min Kyun Park and Masafumi Hirono and Ritsu Kamiya},
  journal={FEBS letters},
  year={2005},
  volume={579 3},
  pages={819-22}
}
The gene product of EFHC1 recently implicated in juvenile myoclonic epilepsy (JME) was found to be a homolog of Chlamydomonas axonemal protein Rib72, whose homologs are present in a wide variety of organisms that have motile cilia and flagella. Western blot analyses and immunofluorescence localization of the mouse ortholog mRib72-1/Efhc1 indicated that it is indeed abundantly present in sperm flagella and tracheal cilia but only in a small amount in the brain. It is not present in immotile… CONTINUE READING

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