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EFHC1 cDNA ORF clone, Homo sapiens (human)

Gene Symbol EFHC1
Entrez Gene ID 114327
Full Name EF-hand domain (C-terminal) containing 1
Synonyms EJM1, dJ304B14.2
General protein information
Preferred Names
EF-hand domain-containing protein 1
Names
EF-hand domain-containing protein 1
myoclonin-1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p12.3

Summary This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. lac of sum
Disorder MIM:

608815

Disorder Html: {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);

mRNA and Protein(s)

mRNA Protein Name
NM_001172420 NP_001165891 EF-hand domain-containing protein 1 isoform 2
NM_018100 NP_060570 EF-hand domain-containing protein 1 isoform 1


Homo sapiens (human) EFHC1 NP_060570.2
Pan troglodytes (chimpanzee) EFHC1 XP_001152433.1
Macaca mulatta (Rhesus monkey) EFHC1 XP_001107470.1
Canis lupus familiaris (dog) EFHC1 XP_005627529.1
Bos taurus (cattle) EFHC1 NP_001179173.1
Mus musculus (house mouse) Efhc1 NP_082250.1
Rattus norvegicus (Norway rat) Efhc1 NP_001116419.2
Gallus gallus (chicken) EFHC1 XP_420047.2
Danio rerio (zebrafish) efhc1 NP_957261.1
Xenopus (Silurana) tropicalis (western clawed frog) efhc1 NP_001008106.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following EFHC1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EFHC1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu08059 NM_001172420 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu19655 NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
$379.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu08059
Clone ID Related Accession (Same CDS sequence) NM_001172420
Accession Version NM_001172420.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1866bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 27-FEB-2014
Organism Homo sapiens (human)
Product EF-hand domain-containing protein 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK297632.1, EU520261.1, AY608689.1, AL049611.24 and BQ268404.1. Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK297632.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001165891.1
CDS185..2050
Misc Feature(1)119..121(+)
Misc Feature(2)404..721(+)
Misc Feature(3)842..1204(+)
Misc Feature(4)1373..1687(+)
Misc Feature(5)1862..2044(+)
Misc Feature(6)1877..2041(+)
Misc Feature(7)1886..2026(+)
Exon (1)1..62
Gene:EFHC1
Gene Synonym:
Exon (2)63..190
Gene:EFHC1
Gene Synonym:
Exon (3)191..412
Gene:EFHC1
Gene Synonym:
Exon (4)413..700
Gene:EFHC1
Gene Synonym:
Exon (5)701..850
Gene:EFHC1
Gene Synonym:
Exon (6)851..1043
Gene:EFHC1
Gene Synonym:
Exon (7)1044..1264
Gene:EFHC1
Gene Synonym:
Exon (8)1265..1405
Gene:EFHC1
Gene Synonym:
Exon (9)1406..1619
Gene:EFHC1
Gene Synonym:
Exon (10)1620..1767
Gene:EFHC1
Gene Synonym:
Exon (11)1768..1978
Gene:EFHC1
Gene Synonym:
Exon (12)1979..5494
Gene:EFHC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001172420
Organism Homo sapiens (human)
Definition Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001172420

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu19655
Clone ID Related Accession (Same CDS sequence) NM_018100
Accession Version NM_018100.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1923bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product EF-hand domain-containing protein 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA906669.1, AK001328.1, BC020210.1, AL049611.24 and BQ270560.1. This sequence is a reference standard in the RefSeqGene project. On Aug 30, 2007 this sequence version replaced gi:145386538. Transcript Variant: This variant (A) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC012921.1, EU520261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_060570.2
CDS216..2138
Misc Feature(1)189..191(+)
Misc Feature(2)492..809(+)
Misc Feature(3)930..1292(+)
Misc Feature(4)1461..1775(+)
Misc Feature(5)1950..2132(+)
Misc Feature(6)1965..2129(+)
Misc Feature(7)1974..2114(+)
Exon (1)1..278
Gene:EFHC1
Gene Synonym:
Exon (2)279..500
Gene:EFHC1
Gene Synonym:
Exon (3)501..788
Gene:EFHC1
Gene Synonym:
Exon (4)789..938
Gene:EFHC1
Gene Synonym:
Exon (5)939..1131
Gene:EFHC1
Gene Synonym:
Exon (6)1132..1352
Gene:EFHC1
Gene Synonym:
Exon (7)1353..1493
Gene:EFHC1
Gene Synonym:
Exon (8)1494..1707
Gene:EFHC1
Gene Synonym:
Exon (9)1708..1855
Gene:EFHC1
Gene Synonym:
Exon (10)1856..2066
Gene:EFHC1
Gene Synonym:
Exon (11)2067..5582
Gene:EFHC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_018100
Organism Homo sapiens (human)
Definition Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_018100

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1
Epilepsy Behav 28 (SUPPL 1), S58-S60 (2013)
de Nijs L, Wolkoff N, Grisar T and Lakaye B.


book

The quest for juvenile myoclonic epilepsy genes
Epilepsy Behav 28 (SUPPL 1), S52-S57 (2013)
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT and Duron RM.


book

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development
Hum. Mol. Genet. 21 (23), 5106-5117 (2012)
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T and Lakaye B.


book

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy
Seizure 21 (7), 550-554 (2012)
Jara-Prado A, Martinez-Juarez IE, Ochoa A, Gonzalez VM, Fernandez-Gonzalez-Aragon Mdel C, Lopez-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV and Alonso ME.


book

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene
Epilepsia 53 (8), 1436-1440 (2012)
Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L and Elpeleg O.


book

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), 137-142 (2006)
Norberg A, Forsgren L, Holmberg D and Holmberg M.


book

Mutations in EFHC1 cause juvenile myoclonic epilepsy
Nat. Genet. 36 (8), 842-849 (2004)
Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, 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 and Yamakawa K.


book

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy
Am. J. Med. Genet. B Neuropsychiatr. Genet. 123B (1), 59-63 (2003)
Izzi C, Barbon A, Toliat MR, Heils A, Becker C, Nurnberg P, Sander T and Barlati S.


book

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6
Neurology 49 (3), 842-847 (1997)
Sander T, Bockenkamp B, Hildmann T, Blasczyk R, Kretz R, Wienker TF, Volz A, Schmitz B, Beck-Mannagetta G, Riess O, Epplen JT, Janz D and Ziegler A.


book

Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations
Am. J. Med. Genet. 63 (3), 438-446 (1996)
Liu AW, Delgado-Escueta AV, Gee MN, Serratosa JM, Zhang QW, Alonso ME, Medina MT, Cordova S, Zhao HZ, Spellman JM, Donnadieu FR, Peek JR, Treiman LJ and Sparkes RS.


 
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