EFHC1
EF-hand domain (C-terminal) containing 1 | |||||||||||
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Identifiers | |||||||||||
Symbols | EFHC1 ; EJM; EJM1; FLJ10466; dJ304B14.2 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 10003 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
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 |
EF-hand domain (C-terminal) containing 1, also known as EFHC1, is a human gene.[1]
References
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. 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. 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. 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. 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. 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. 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.
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