CACNA1H(CACNA1H) (NM_021098) Human Tagged ORF Clone

CAT#: RC212772

CACNA1H (Myc-DDK-tagged)-Human calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1

Clone Modification / Custom Cloning Service

USD 1,999.00


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Size
    • 10 ug

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Specifications

Product Data
Product Name CACNA1H(CACNA1H) (NM_021098) Human Tagged ORF Clone
Symbol CACNA1H
Synonyms CACNA1HB; Cav3.2; ECA6; EIG6; HALD4
Vector pCMV6-Entry
Sequence Data
>RC212772 representing NM_021098
Red=Cloning site Blue=ORF Green=Tags(s)

GCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCCGCCGCGATCGCCGGCGCGCCAGATCTC
AAGCTTAACTAGCTAGCGGACCGAC

ATGACCGAGGGCGCACGGGCCGCCGACGAGGTCCGGGTGCCCCTGGGCGCGCCGCCCCCTGGCCCTGCGG
CGTTGGTGGGGGCGTCCCCGGAGAGCCCCGGGGCGCCGGGACGCGAGGCGGAGCGGGGGTCCGAGCTCGG
CGTGTCACCCTCCGAGAGCCCGGCGGCCGAGCGCGGCGCGGAGCTGGGTGCCGACGAGGAGCAGCGCGTC
CCGTACCCGGCCTTGGCGGCCACGGTCTTCTTCTGCCTCGGTCAGACCACGCGGCCGCGCAGCTGGTGCC
TCCGGCTGGTCTGCAACCCATGGTTCGAGCACGTGAGCATGCTGGTAATCATGCTCAACTGCGTGACCCT
GGGCATGTTCCGGCCCTGTGAGGACGTTGAGTGCGGCTCCGAGCGCTGCAACATCCTGGAGGCCTTTGAC
GCCTTCATTTTCGCCTTTTTTGCGGTGGAGATGGTCATCAAGATGGTGGCCTTGGGGCTGTTCGGGCAGA
AGTGTTACCTGGGTGACACGTGGAACAGGCTGGATTTCTTCATCGTCGTGGCGGGCATGATGGAGTACTC
GTTGGACGGACACAACGTGAGCCTCTCGGCTATCAGGACCGTGCGGGTGCTGCGGCCCCTCCGCGCCATC
AACCGCGTGCCTAGCATGCGGATCCTGGTCACTCTGCTGCTGGATACGCTGCCCATGCTCGGGAACGTCC
TTCTGCTGTGCTTCTTCGTCTTCTTCATTTTCGGCATCGTTGGCGTCCAGCTCTGGGCTGGCCTCCTGCG
GAACCGCTGCTTCCTGGACAGTGCCTTTGTCAGGAACAACAACCTGACCTTCCTGCGGCCGTACTACCAG
ACGGAGGAGGGCGAGGAGAACCCGTTCATCTGCTCCTCACGCCGAGACAACGGCATGCAGAAGTGCTCGC
ACATCCCCGGCCGCCGCGAGCTGCGCATGCCCTGCACCCTGGGCTGGGAGGCCTACACGCAGCCGCAGGC
CGAGGGGGTGGGCGCTGCACGCAACGCCTGCATCAACTGGAACCAGTACTACAACGTGTGCCGCTCGGGT
GACTCCAACCCCCACAACGGTGCCATCAACTTCGACAACATCGGCTACGCCTGGATTGCCATCTTCCAGG
TGATCACGCTGGAAGGCTGGGTGGACATCATGTACTACGTCATGGACGCCCACTCATTCTACAACTTCAT
CTATTTCATCCTGCTCATCATCGTGGGCTCCTTCTTCATGATCAACCTGTGCCTGGTGGTGATTGCCACG
CAGTTCTCGGAGACGAAGCAGCGGGAGAGTCAGCTGATGCGGGAGCAGCGGGCACGCCACCTGTCCAACG
ACAGCACGCTGGCCAGCTTCTCCGAGCCTGGCAGCTGCTACGAAGAGCTGCTGAAGTACGTGGGCCACAT
ATTCCGCAAGGTCAAGCGGCGCAGCTTGCGCCTCTACGCCCGCTGGCAGAGCCGCTGGCGCAAGAAGGTG
GACCCCAGTGCTGTGCAAGGCCAGGGTCCCGGGCACCGCCAGCGCCGGGCAGGCAGGCACACAGCCTCGG
TGCACCACCTGGTTTACCACCACCATCACCACCACCACCACCACTACCATTTCAGCCATGGCAGCCCCCG
CAGGCCCGGCCCCGAGCCAGGCGCCTGCGACACCAGGCTGGTCCGAGCTGGCGCGCCCCCCTCGCCACCT
TCCCCAGGCCGCGGACCCCCCGACGCAGAGTCTGTGCACAGCATCTACCATGCCGACTGCCACATAGAGG
GGCCGCAGGAGAGGGCCCGGGTGGCACATGCCGCAGCCACTGCCGCTGCCAGCCTCAGACTGGCCACAGG
GCTGGGCACCATGAACTACCCCACGATCCTGCCCTCAGGGGTGGGCAGCGGCAAAGGCAGCACCAGCCCC
GGACCCAAGGGGAAGTGGGCCGGTGGACCGCCAGGCACCGGGGGGCACGGCCCGTTGAGCTTGAACAGCC
CTGATCCCTACGAGAAGATCCCGCATGTGGTCGGGGAGCATGGACTGGGCCAGGCCCCTGGCCATCTGTC
GGGCCTCAGTGTGCCCTGCCCCCTGCCCAGCCCCCCAGCGGGCACACTGACCTGTGAGCTGAAGAGCTGC
CCGTACTGCACCCGTGCCCTGGAGGACCCGGAGGGTGAGCTCAGCGGCTCGGAAAGTGGAGACTCAGATG
GCCGTGGCGTCTATGAATTCACGCAGGACGTCCGGCACGGTGACCGCTGGGACCCCACGCGACCACCCCG
TGCGACGGACACACCAGGCCCAGGCCCAGGCAGCCCCCAGCGGCGGGCACAGCAGAGGGCAGCCCCGGGC
GAGCCAGGCTGGATGGGCCGCCTCTGGGTTACCTTCAGCGGCAAGCTGCGCCGCATCGTGGACAGCAAGT
ACTTCAGCCGTGGCATCATGATGGCCATCCTTGTCAACACGCTGAGCATGGGCGTGGAGTACCATGAGCA
GCCCGAGGAGCTGACTAATGCTCTGGAGATCAGCAACATCGTGTTCACCAGCATGTTTGCCCTGGAGATG
CTGCTGAAGCTGCTGGCCTGCGGCCCTCTGGGCTACATCCGGAACCCGTACAACATCTTCGACGGCATCA
TCGTGGTCATCAGCGTCTGGGAGATCGTGGGGCAGGCGGACGGTGGCTTGTCTGTGCTGCGCACCTTCCG
GCTGCTGCGTGTGCTGAAGCTGGTGCGCTTTCTGCCAGCCCTGCGGCGCCAGCTCGTGGTGCTGGTGAAG
ACCATGGACAACGTGGCTACCTTCTGCACGCTGCTCATGCTCTTCATTTTCATCTTCAGCATCCTGGGCA
TGCACCTTTTCGGCTGCAAGTTCAGCCTGAAGACAGACACCGGAGACACCGTGCCTGACAGGAAGAACTT
CGACTCCCTGCTGTGGGCCATCGTCACCGTGTTCCAGATCCTGACCCAGGAGGACTGGAACGTGGTCCTG
TACAACGGCATGGCCTCCACCTCCTCCTGGGCCGCCCTCTACTTCGTGGCCCTCATGACCTTCGGCAACT
ATGTGCTCTTCAACCTGCTGGTGGCCATCCTCGTGGAGGGCTTCCAGGCGGAGGGCGATGCCAACAGATC
CGACACGGACGAGGACAAGACGTCGGTCCACTTCGAGGAGGACTTCCACAAGCTCAGAGAACTCCAGACC
ACAGAGCTGAAGATGTGTTCCCTGGCCGTGACCCCCAACGGGCACCTGGAGGGACGAGGCAGCCTGTCCC
CTCCCCTCATCATGTGCACAGCTGCCACGCCCATGCCTACCCCCAAGAGCTCACCATTCCTGGATGCAGC
CCCCAGCCTCCCAGACTCTCGGCGTGGCAGCAGCAGCTCCGGGGACCCGCCACTGGGAGACCAGAAGCCT
CCGGCCAGCCTCCGAAGTTCTCCCTGTGCCCCCTGGGGCCCCAGTGGCGCCTGGAGCAGCCGGCGCTCCA
GCTGGAGCAGCCTGGGCCGTGCCCCCAGCCTCAAGCGCCGCGGCCAGTGTGGGGAACGTGAGTCCCTGCT
GTCTGGCGAGGGCAAGGGCAGCACCGACGACGAAGCTGAGGACGGCAGGGCCGCGCCCGGGCCCCGTGCC
ACCCCACTGCGGCGGGCCGAGTCCCTGGACCCACGGCCCCTGCGGCCGGCCGCCCTCCCGCCTACCAAGT
GCCGCGATCGCGACGGGCAGGTGGTGGCCCTGCCCAGCGACTTCTTCCTGCGCATCGACAGCCACCGTGA
GGATGCAGCCGAGCTTGACGACGACTCGGAGGACAGCTGCTGCCTCCGCCTGCATAAAGTGCTGGAGCCC
TACAAGCCCCAGTGGTGCCGGAGCCGCGAGGCCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTTCC
GCGTCTCCTGCCAGAAGGTCATCACACACAAGATGTTTGATCACGTGGTCCTCGTCTTCATCTTCCTCAA
CTGCGTCACCATCGCCCTGGAGAGGCCTGACATTGACCCCGGCAGCACCGAGCGGGTCTTCCTCAGCGTC
TCCAATTACATCTTCACGGCCATCTTCGTGGCAGAGATGATGGTGAAGGTGGTGGCCCTGGGGCTGCTGT
CCGGCGAGCACGCCTACCTGCAGAGCAGCTGGAACCTGCTGGATGGGCTGCTGGTGCTGGTGTCCCTGGT
GGACATTGTCGTGGCCATGGCCTCGGCTGGTGGCGCCAAGATCCTGGGTGTTCTGCGCGTGCTGCGTCTG
CTGCGGACCCTGCGGCCTCTGAGGGTCATCAGCCGGGCCCCGGGCCTCAAGCTGGTGGTGGAGACGCTGA
TATCATCACTCAGGCCCATTGGGAACATCGTCCTCATCTGCTGCGCCTTCTTCATCATTTTTGGCATCTT
GGGTGTGCAGCTCTTCAAAGGGAAGTTCTACTACTGCGAGGGCCCCGACACCAGGAACATCTCCACCAAG
GCACAGTGCCGGGCCGCCCACTACCGCTGGGTGCGACGCAAGTACAACTTCGACAACCTGGGCCAGGCCC
TGATGTCGCTGTTCGTGCTGTCATCCAAGGATGGATGGGTGAACATCATGTACGACGGGCTGGATGCCGT
GGGTGTCGACCAGCAGCCTGTGCAGAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTGCTC
ATCGTCAGCTTCTTCGTGCTCAACATGTTCGTGGGCGTCGTGGTCGAGAACTTCCACAAGTGCCGGCAGC
ACCAGGAGGCGGAGGAGGCGCGGCGGCGAGAGGAGAAGCGGCTGCGGCGCCTAGAGAGGAGGCGCAGGAG
CACTTTCCCCAGCCCAGAGGCCCAGCGCCGGCCCTACTATGCCGACTACTCGCCCACGCGCCGCTCCATT
CACTCGCTGTGCACCAGCCACTATCTCGACCTCTTCATCACCTTCATCATCTGTGTCAACGTCATCACCA
TGTCCATGGAGCACTATAACCAACCCAAGTCGCTGGACGAGGCCCTCAAGTACTGCAACTACGTCTTCAC
CATCGTGTTTGTCTTCGAGGCTGCACTGAAGCTGGTAGCATTTGGGTTCCGTCGGTTCTTCAAGGACAGG
TGGAACCAGCTGGACCTGGCCATCGTGCTGCTGTCACTCATGGGCATCACGCTGGAGGAGATAGAGATGA
GCGCCGCGCTGCCCATCAACCCCACCATCATCCGCATCATGCGCGTGCTTCGCATTGCCCGTGTGCTGAA
GCTGCTGAAGATGGCTACGGGCATGCGCGCCCTGCTGGACACTGTGGTGCAAGCTCTCCCCCAGGTGGGG
AACCTGGGCCTTCTTTTCATGCTCCTGTTTTTTATCTATGCTGCGCTGGGAGTGGAGCTGTTCGGGAGGC
TGGAGTGCAGTGAAGACAACCCCTGCGAGGGCCTGAGCAGGCACGCCACCTTCAGCAACTTCGGCATGGC
CTTCCTCACGCTGTTCCGCGTGTCCACGGGGGACAACTGGAACGGGATCATGAAGGACACGCTGCGCGAG
TGCTCCCGTGAGGACAAGCACTGCCTGAGCTACCTGCCGGCCCTGTCGCCCGTCTACTTCGTGACCTTCG
TGCTGGTGGCCCAGTTCGTGCTGGTGAACGTGGTGGTGGCCGTGCTCATGAAGCACCTGGAGGAGAGCAA
CAAGGAGGCACGGGAGGATGCGGAGCTGGACGCCGAGATCGAGCTGGAGATGGCGCAGGGCCCCGGGAGT
GCACGCCGGGTGGACGCGGACAGGCCTCCCTTGCCCCAGGAGAGTCCGGGCGCCAGGGATGCCCCAAACC
TGGTTGCACGCAAGGTGTCCGTGTCCAGGATGCTCTCGCTGCCCAACGACAGCTACATGTTCAGGCCCGT
GGTGCCTGCCTCGGCGCCCCACCCCCGCCCGCTGCAGGAGGTGGAGATGGAGACCTATGGGGCCGGCACC
CCCTTGGGCTCCGTTGCCTCTGTGCACTCTCCGCCCGCAGAGTCCTGTGCCTCCCTCCAGATCCCACTGG
CTGTGTCGTCCCCAGCCAGGAGCGGCGAGCCCCTCCACGCCCTGTCCCCTCGGGGCACAGCCCGCTCCCC
CAGTCTCAGCCGGCTGCTCTGCAGACAGGAGGCTGTGCACACCGATTCCTTGGAAGGGAAGATTGACAGC
CCTAGGGACACCCTGGATCCTGCAGAGCCTGGTGAGAAAACCCCGGTGAGGCCGGTGACCCAGGGGGGCT
CCCTGCAGTCCCCACCACGCTCCCCACGGCCCGCCAGCGTCCGCACTCGTAAGCATACCTTCGGACAGCG
CTGCGTCTCCAGCCGGCCGGCGGCCCCAGGCGGAGAGGAGGCCGAGGCCTCGGACCCAGCCGACGAGGAG
GTCAGCCACATCACCAGCTCCGCCTGCCCCTGGCAGCCCACAGCCGAGCCCCATGGCCCCGAAGCCTCTC
CGGTGGCCGGCGGCGAGCGGGACCTGCGCAGGCTCTACAGCGTGGACGCTCAGGGCTTCCTGGACAAGCC
GGGCCGGGCAGACGAGCAGTGGCGGCCCTCGGCGGAGCTGGGCAGCGGGGAGCCTGGGGAGGCGAAGGCC
TGGGGCCCTGAGGCCGAGCCCGCTCTGGGTGCGCGCAGAAAGAAGAAGATGAGCCCCCCCTGCATCTCGG
TGGAACCCCCTGCGGAGGACGAGGGCTCTGCGCGGCCCTCCGCGGCAGAGGGCGGCAGCACCACACTGAG
GCGCAGGACCCCGTCCTGTGAGGCCACGCCTCACAGGGACTCCCTGGAGCCCACAGAGGGCTCAGGCGCC
GGGGGGGACCCTGCAGCCAAGGGGGAGCGCTGGGGCCAGGCCTCCTGCCGGGCTGAGCACCTGACCGTCC
CCAGCTTTGCCTTTGAGCCGCTGGACCTCGGGGTCCCCAGTGGAGACCCTTTCTTGGACGGTAGCCACAG
TGTGACCCCAGAATCCAGAGCTTCCTCTTCAGGGGCCATAGTGCCCCTGGAACCCCCAGAATCAGAGCCT
CCCATGCCCGTCGGTGACCCCCCAGAGAAGAGGCGGGGGCTGTACCTCACAGTCCCCCAGTGTCCTCTGG
AGAAACCAGGGTCCCCCTCAGCCACCCCTGCCCCAGGGGGTGGTGCAGATGACCCCGTG


ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT
ACAAGGATGACGACGATAAGG
TTTAA
>RC212772 representing NM_021098
Red=Cloning site Green=Tags(s)

MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRV
PYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFD
AFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAI
NRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQ
TEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSG
DSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKV
DPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPP
SPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSP
GPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSC
PYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPG
EPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVK
TMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVL
YNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQT
TELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKP
PASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRA
TPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSV
SNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRL
LRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTK
AQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLL
IVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSI
HSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVG
NLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRE
CSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGS
ARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGT
PLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDS
PRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKA
WGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGA
GGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEP
PMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV

TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Chromatograms CHROMATOGRAMS
Sequencher program is needed, download here.
Restriction Sites RsrII-MluI      Cloning Scheme for this gene      Plasmid Map     
Tag Myc-DDK
ACCN NM_021098
ORF Size 7059 bp
OTI Disclaimer Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.

The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Product Components The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.
Reference Data
RefSeq NM_021098.1, NM_021098.2, NP_066921
RefSeq Size 8097
RefSeq ORF 7062
Locus ID 8912
Cytogenetics 16p13.3
Protein Families Ion Channels: Calcium, Transmembrane, Druggable Genome
Protein Pathways MAPK signaling pathway, Calcium signaling pathway
MW 259 kDa
Gene Summary This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008].
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Citations (1)