EFHC1 explained

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.^[1]

Not all variants of EFHC1 are pathogenic.^[2]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Liu AW . Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations . Am. J. Med. Genet. . 63 . 3 . 438–46 . 1996 . 8737649 . 10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N . vanc. Delgado-Escueta AV . Gee MN . 3 . Serratosa . J. M. . Zhang . Q. W. . Alonso . M. E. . Medina . M. T. . Cordova . S. . Zhao . H. Z. . 39114983 .
• Sander T . Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 . Neurology . 49 . 3 . 842–7 . 1997 . 9305351 . 10.1212/wnl.49.3.842. vanc. Bockenkamp B . Hildmann T . 3 . Blasczyk . R . Kretz . R . Wienker . TF . Volz . A . Schmitz . B . Beck-Mannagetta . G . 11455679 .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Mungall AJ . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . vanc. Palmer SA . Sims SK . 3 . Edwards . C. A. . Ashurst . J. L. . Wilming . L. . Jones . M. C. . Horton . R. . Hunt . S. E. . 2003Natur.425..805M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Suzuki T . Mutations in EFHC1 cause juvenile myoclonic epilepsy . Nat. Genet. . 36 . 8 . 842–9 . 2004 . 15258581 . 10.1038/ng1393 . vanc. Delgado-Escueta AV . Aguan K . 3 . Alonso . Maria E . Shi . Jun . Hara . Yuji . Nishida . Motohiro . Numata . Tomohiro . Medina . Marco T . 32916803 .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Rual JF . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . vanc. Venkatesan K . Hao T . 3 . Hirozane-Kishikawa . Tomoko . Dricot . Amélie . Li . Ning . Berriz . Gabriel F. . Gibbons . Francis D. . Dreze . Matija . 2005Natur.437.1173R . 4427026 .
• Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Norberg A, Forsgren L, Holmberg D, Holmberg M . 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 . Neurosci. Lett. . 396 . 2 . 137–42 . 2006 . 16378686 . 10.1016/j.neulet.2005.11.039 . 24130870 .
• de Nijs L . EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus . Exp. Cell Res. . 312 . 15 . 2872–9 . 2006 . 16824517 . 10.1016/j.yexcr.2006.05.011 . vanc. Lakaye B . Coumans B . 3 . Léon . Christine . Ikeda . Takashi . Delgado-Escueta . Antonio V. . Grisar . Thierry . Chanas . Grazyna .
• Pinto D . Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families . Epilepsia . 47 . 10 . 1743–6 . 2006 . 17054699 . 10.1111/j.1528-1167.2006.00676.x . vanc. Louwaars S . Westland B . 3 . Volkers . Linda . De Haan . Gerrit-Jan . Trenité . Dorothée G.A. Kasteleijn-Nolst . Lindhout . Dick . Koeleman . Bobby P.C. . 20168220 . free .
• Stogmann E . Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations . Neurology . 67 . 11 . 2029–31 . 2007 . 17159113 . 10.1212/01.wnl.0000250254.67042.1b . vanc. Lichtner P . Baumgartner C . 3 . Bonelli . S. . Assem-Hilger . E. . Leutmezer . F. . Schmied . M. . Hotzy . C. . Strom . T. M. . 11770274 .
• Annesi F . Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy . Epilepsia . 48 . 9 . 1686–90 . 2007 . 17634063 . 10.1111/j.1528-1167.2007.01173.x . vanc. Gambardella A . Michelucci R . 3 . Bianchi . Amedeo . Marini . Carla . Canevini . Maria Paola . Capovilla . Giuseppe . Elia . Maurizio . Buti . Daniela . 7745360 . free .

Notes and References

1. Web site: Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1.
2. Subaran RL, Conte JM, Stewart WC, Greenberg DA. Common EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.. Epilepsia. 2015 . 56. 2. 188–94. 10.1111/epi.12864. 25489633. 4354299.