EFHC1

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]

References

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

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. S2CID 39114983
• 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. S2CID 11455679
• 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Natur.425..805M. 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. S2CID 32916803
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026
• 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. S2CID 24130870
• 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. S2CID 20168220
• 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. S2CID 11770274
• 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. S2CID 7745360