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EFHC1  -  EF-hand domain (C-terminal) containing 1

Homo sapiens

 
 
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Disease relevance of EFHC1

 

High impact information on EFHC1

  • Here, we describe a new gene in this region, EFHC1, which encodes a protein with an EF-hand motif [4].
  • Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals [4].
  • Overexpression of EFHC1 in mouse hippocampal primary culture neurons induced apoptosis that was significantly lowered by the mutations [4].
  • 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 [5].
  • During mitosis EGFP-EFHC1 colocalized with the mitotic spindle, especially at spindle poles and with the midbody during cytokinesis [5].
 

Biological context of EFHC1

  • Our results suggest that EFHC1 could play an important role during cell division [5].
  • Methods: We screened all coding and regulatory regions of EFHC1 by direct sequencing, and the detected variants were tested in a case-control association study [6].
  • Thus, the absence of significant and potentially functional mutations in the remaining 14 genes further supports the concept that Myoclonin1/EFHC1 is the EJM1 gene in chromosome 6p12 [7].
  • Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations [3].
 

Anatomical context of EFHC1

  • To study the properties of EFHC1, we expressed EGFP-tagged protein in various cell lines [5].

References

  1. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. Norberg, A., Forsgren, L., Holmberg, D., Holmberg, M. Neurosci. Lett. (2006) [Pubmed]
  2. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Gu, W., Sander, T., Heils, A., Lenzen, K.P., Steinlein, O.K. Epilepsy Res. (2005) [Pubmed]
  3. Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Stogmann, E., Lichtner, P., Baumgartner, C., Bonelli, S., Assem-Hilger, E., Leutmezer, F., Schmied, M., Hotzy, C., Strom, T.M., Meitinger, T., Zimprich, F., Zimprich, A. Neurology (2006) [Pubmed]
  4. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J.N., Ochoa, A., Jara-Prado, A., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Inoue, Y., Osawa, M., Kaneko, S., Oguni, H., Mori, Y., Yamakawa, K. Nat. Genet. (2004) [Pubmed]
  5. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. de Nijs, L., Lakaye, B., Coumans, B., Léon, C., Ikeda, T., Delgado-Escueta, A.V., Grisar, T., Chanas, G. Exp. Cell Res. (2006) [Pubmed]
  6. Heterogeneity at the JME 6p11-12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families. Pinto, D., Louwaars, S., Westland, B., Volkers, L., de Haan, G.J., Trenit??, D.G., Lindhout, D., Koeleman, B.P. Epilepsia (2006) [Pubmed]
  7. Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Alonso, M.E., Morita, R., Okamura, N., Sugimoto, Y., Bai, D., Medina, M.T., Bailey, J.N., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Ochoa, A., Jara-Prado, A., Inazawa, J., Yamakawa, K. Neurosci. Lett. (2006) [Pubmed]
 
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