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Article

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

Experimental cell research - 10 Sept 2006

de Nijs Laurence, Lakaye Bernard, Coumans Bernard, Léon Christine, Ikeda Takashi, Delgado-Escueta Antonio V, Grisar Thierry, Chanas Grazyna

Abstract excerpt

A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function and one putative EF-hand motif. To study the properties of EFHC1, we expressed EGFP-tagged protein in various cell lines. In interphase cells, the fusion protein was present in the cytoplasm and in the nucleus with specific accumulation at the centrosome. During mitosis EGFP-EFHC1...

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Source

Identifiers

PMID: 16824517
DOI: 10.1016/j.yexcr.2006.05.011

Genes

EFHC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.PMID 16824517Read ↗

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The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagellaSemantic proximity Read ↗

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