The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella
Authors:
- Kazuho IkedaKIKazuho Ikeda
- Masahiro EnomotoMEMasahiro Enomoto
- Min Kyun ParkMPMin Kyun Park
- Masafumi HironoMHMasafumi Hirono
- Ritsu KamiyaRKRitsu Kamiya
- 13 January 2005
- journal article
- Published by Wiley in FEBS Letters
- Vol. 579 (3) , 819-822
Abstract
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 primary cilia. These observations raise the possibility that malfunction of motile cilia is involved in the development of JME.Keywords
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