EFHC1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Liu AW, Delgado-Escueta AV, Gee MN, et al. (1996). "Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations". Am. J. Med. Genet. 63 (3): 438–46. doi:10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N. PMID 8737649.
• Sander T, Bockenkamp B, Hildmann T, et al. (1997). "Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6". Neurology. 49 (3): 842–7. doi:10.1212/wnl.49.3.842. PMID 9305351.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Suzuki T, Delgado-Escueta AV, Aguan K, et al. (2004). "Mutations in EFHC1 cause juvenile myoclonic epilepsy". Nat. Genet. 36 (8): 842–9. doi:10.1038/ng1393. PMID 15258581.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Norberg A, Forsgren L, Holmberg D, Holmberg M (2006). "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. doi:10.1016/j.neulet.2005.11.039. PMID 16378686.
• de Nijs L, Lakaye B, Coumans B, et al. (2006). "EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus". Exp. Cell Res. 312 (15): 2872–9. doi:10.1016/j.yexcr.2006.05.011. PMID 16824517.
• Pinto D, Louwaars S, Westland B, et al. (2006). "Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families". Epilepsia. 47 (10): 1743–6. doi:10.1111/j.1528-1167.2006.00676.x. PMID 17054699.
• Stogmann E, Lichtner P, Baumgartner C, et al. (2007). "Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations". Neurology. 67 (11): 2029–31. doi:10.1212/01.wnl.0000250254.67042.1b. PMID 17159113.
• Annesi F, Gambardella A, Michelucci R, et al. (2007). "Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy". Epilepsia. 48 (9): 1686–90. doi:10.1111/j.1528-1167.2007.01173.x. PMID 17634063.