Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy

Cell Motil Cytoskeleton. 2006 May;63(5):245-53. doi: 10.1002/cm.20129.


Juvenile myoclonic epilepsy (JME) is a common neurological disorder that results in short uncontrolled muscle contractions and sometimes more severe seizures. Genetic studies have suggested that JME may be caused by mutations in EFHC1. The Efhc1 protein consists of three DM10 domains and a C-terminal region containing a potential Ca2+ -binding motif. In Chlamydomonas, a protein (Rib72) of almost identical domain structure is a component of the protofilament ribbons within the doublet microtubules of the flagellar axoneme. Here I discuss recent work that supports assignment of human Efhc1 as a ciliary component and the resulting implications for the mechanism of disease causation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Animals
  • Calcium-Binding Proteins / analysis
  • Calcium-Binding Proteins / chemistry*
  • Calcium-Binding Proteins / genetics*
  • Chlamydomonas
  • Cilia / chemistry*
  • Cilia / genetics
  • Flagella / chemistry
  • Flagella / genetics
  • Humans
  • Microtubules / chemistry
  • Microtubules / genetics
  • Molecular Sequence Data
  • Myoclonic Epilepsy, Juvenile / genetics*
  • Protein Structure, Tertiary
  • Protozoan Proteins / analysis
  • Protozoan Proteins / chemistry
  • Protozoan Proteins / genetics


  • Calcium-Binding Proteins
  • EFHC1 protein, human
  • Protozoan Proteins