CACNA1A (NM_000068) Human Tagged ORF Clone

CAT#: RC214314

CACNA1A (Myc-DDK-tagged)-Human calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 1

Product Images

Circular map for RC214314

Specifications

Product Data

• Type: Human Tagged ORF Clone
• Tag: Myc-DDK
• Symbol: CACNA1A
• Synonyms: APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2; EIEE42; FHM; HPCA; MHP; MHP1; SCA6
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  ORF Nucleotide Sequence

  >RC214314 representing NM_000068
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGCCCGCTTCGGAGACGAGATGCCGGCCCGCTACGGGGGAGGAGGCTCCGGGGCAGCCGCCGGGGTGG
  TCGTGGGCAGCGGAGGCGGGCGAGGAGCCGGGGGCAGCCGGCAGGGCGGGCAGCCCGGGGCGCAAAGGAT
  GTACAAGCAGTCAATGGCGCAGAGAGCGCGGACCATGGCACTCTACAACCCCATCCCCGTCCGACAGAAC
  TGCCTCACGGTTAACCGGTCTCTCTTCCTCTTCAGCGAAGACAACGTGGTGAGAAAATACGCCAAAAAGA
  TCACCGAATGGCCTCCCTTTGAATATATGATTTTAGCCACCATCATAGCGAATTGCATCGTCCTCGCACT
  GGAGCAGCATCTGCCTGATGATGACAAGACCCCGATGTCTGAACGGCTGGATGACACAGAACCATACTTC
  ATTGGAATTTTTTGTTTCGAGGCTGGAATTAAAATCATTGCCCTTGGGTTTGCCTTCCACAAAGGCTCCT
  ACTTGAGGAATGGCTGGAATGTCATGGACTTTGTGGTGGTGCTAACGGGCATCTTGGCGACAGTTGGGAC
  GGAGTTTGACCTACGGACGCTGAGGGCAGTTCGAGTGCTGCGGCCGCTCAAGCTGGTGTCTGGAATCCCA
  AGTTTACAAGTCGTCCTGAAGTCGATCATGAAGGCGATGATCCCTTTGCTGCAGATCGGCCTCCTCCTAT
  TTTTTGCAATCCTTATTTTTGCAATCATAGGGTTAGAATTTTATATGGGAAAATTTCATACCACCTGCTT
  TGAAGAGGGGACAGATGACATTCAGGGTGAGTCTCCGGCTCCATGTGGGACAGAAGAGCCCGCCCGCACC
  TGCCCCAATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGGGATCACTCAGTTCGACAACA
  TCCTGTTTGCAGTGCTGACTGTTTTCCAGTGCATAACCATGGAAGGGTGGACTGATCTCCTCTACAATAG
  CAACGATGCCTCAGGGAACACTTGGAACTGGTTGTACTTCATCCCCCTCATCATCATCGGCTCCTTTTTT
  ATGCTGAACCTTGTGCTGGGTGTGCTGTCAGGGGAGTTTGCCAAAGAAAGGGAACGGGTGGAGAACCGGC
  GGGCTTTTCTGAAGCTGAGGCGGCAACAACAGATTGAACGTGAGCTCAATGGGTACATGGAGTGGATCTC
  AAAAGCAGAAGAGGTGATCCTCGCCGAGGATGAAACTGACGGGGAGCAGAGGCATCCCTTTGATGGAGCT
  CTGCGGAGAACCACCATAAAGAAAAGCAAGACAGATTTGCTCAACCCCGAAGAGGCTGAGGATCAGCTGG
  CTGATATAGCCTCTGTGGGTTCTCCCTTCGCCCGAGCCAGCATTAAAAGTGCCAAGCTGGAGAACTCGAC
  CTTTTTTCACAAAAAGGAGAGGAGGATGCGTTTCTACATCCGCCGCATGGTCAAAACTCAGGCCTTCTAC
  TGGACTGTACTCAGTTTGGTAGCTCTCAACACGCTGTGTGTTGCTATTGTTCACTACAACCAGCCCGAGT
  GGCTCTCCGACTTCCTTTACTATGCAGAATTCATTTTCTTAGGACTCTTTATGTCCGAAATGTTTATAAA
  AATGTACGGGCTTGGGACGCGGCCTTACTTCCACTCTTCCTTCAACTGCTTTGACTGTGGGGTTATCATT
  GGGAGCATCTTCGAGGTCATCTGGGCTGTCATAAAACCTGGCACATCCTTTGGAATCAGCGTGTTACGAG
  CCCTCAGGTTATTGCGTATTTTCAAAGTCACAAAGTACTGGGCATCTCTCAGAAACCTGGTCGTCTCTCT
  CCTCAACTCCATGAAGTCCATCATCAGCCTGTTGTTTCTCCTTTTCCTGTTCATTGTCGTCTTCGCCCTT
  TTGGGAATGCAACTCTTCGGCGGCCAGTTTAATTTCGATGAAGGGACTCCTCCCACCAACTTCGATACTT
  TTCCAGCAGCAATAATGACGGTGTTTCAGATCCTGACGGGCGAAGACTGGAACGAGGTCATGTACGACGG
  GATCAAGTCTCAGGGGGGCGTGCAGGGCGGCATGGTGTTCTCCATCTATTTCATTGTACTGACGCTCTTT
  GGGAACTACACCCTCCTGAATGTGTTCTTGGCCATCGCTGTGGACAATCTGGCCAACGCCCAGGAGCTCA
  CCAAGGTGGAGGCGGACGAGCAAGAGGAAGAAGAAGCAGCGAACCAGAAACTTGCCCTACAGAAAGCCAA
  GGAGGTGGCAGAAGTGAGTCCTCTGTCCGCGGCCAACATGTCTATAGCTGTGAAAGAGCAACAGAAGAAT
  CAAAAGCCAGCCAAGTCCGTGTGGGAGCAGCGGACCAGTGAGATGCGAAAGCAGAACTTGCTGGCCAGCC
  GGGAGGCCCTGTATAACGAAATGGACCCGGACGAGCGCTGGAAGGCTGCCTACACGCGGCACCTGCGGCC
  AGACATGAAGACGCACTTGGACCGGCCGCTGGTGGTGGACCCGCAGGAGAACCGCAACAACAACACCAAC
  AAGAGCCGGGCGGCCGAGCCCACCGTGGACCAGCGCCTCGGCCAGCAGCGCGCCGAGGACTTCCTCAGGA
  AACAGGCCCGCTACCACGATCGGGCCCGGGACCCCAGCGGCTCGGCGGGCCTGGACGCACGGAGGCCCTG
  GGCGGGAAGCCAGGAGGCCGAGCTGAGCCGGGAGGGACCCTACGGCCGCGAGTCGGACCACCACGCCCGG
  GAGGGCAGCCTGGAGCAACCCGGGTTCTGGGAGGGCGAGGCCGAGCGAGGCAAGGCCGGGGACCCCCACC
  GGAGGCACGTGCACCGGCAGGGGGGCAGCAGGGAGAGCCGCAGCGGGTCCCCGCGCACGGGCGCGGACGG
  GGAGCATCGACGTCATCGCGCGCACCGCAGGCCCGGGGAGGAGGGTCCGGAGGACAAGGCGGAGCGGAGG
  GCGCGGCACCGCGAGGGCAGCCGGCCGGCCCGGGGCGGCGAGGGCGAGGGCGAGGGCCCCGACGGGGGCG
  AGCGCAGGAGAAGGCACCGGCATGGCGCTCCAGCCACGTACGAGGGGGACGCGCGGAGGGAGGACAAGGA
  GCGGAGGCATCGGAGGAGGAAAGAGAACCAGGGCTCCGGGGTCCCTGTGTCGGGCCCCAACCTGTCAACC
  ACCCGGCCAATCCAGCAGGACCTGGGCCGCCAAGACCCACCCCTGGCAGAGGATATTGACAACATGAAGA
  ACAACAAGCTGGCCACCGCGGAGTCGGCCGCTCCCCACGGCAGCCTTGGCCACGCCGGCCTGCCCCAGAG
  CCCAGCCAAGATGGGAAACAGCACCGACCCCGGCCCCATGCTGGCCATCCCTGCCATGGCCACCAACCCC
  CAGAACGCCGCCAGCCGCCGGACGCCCAACAACCCGGGGAACCCATCCAATCCCGGCCCCCCCAAGACCC
  CCGAGAATAGCCTTATCGTCACCAACCCCAGCGGCACCCAGACCAATTCAGCTAAGACTGCCAGGAAACC
  CGACCACACCACAGTGGACATCCCCCCAGCCTGCCCACCCCCCCTCAACCACACCGTCGTACAAGTGAAC
  AAAAACGCCAACCCAGACCCACTGCCAAAAAAAGAGGAAGAGAAGAAGGAGGAGGAGGAAGACGACCGTG
  GGGAAGACGGCCCTAAGCCAATGCCTCCCTATAGCTCCATGTTCATCCTGTCCACGACCAACCCCCTTCG
  CCGCCTGTGCCATTACATCCTGAACCTGCGCTACTTTGAGATGTGCATCCTCATGGTCATTGCCATGAGC
  AGCATCGCCCTGGCCGCCGAGGACCCTGTGCAGCCCAACGCACCTCGGAACAACGTGCTGCGATACTTTG
  ACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGATGATTGACCTGGGGCTCGTCCTGCA
  TCAGGGTGCCTACTTCCGTGACCTCTGGAATATTCTCGACTTCATAGTGGTCAGTGGGGCCCTGGTAGCC
  TTTGCCTTCACTGGCAATAGCAAAGGAAAAGACATCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGC
  TACGACCTCTTAAAACCATCAAGCGGCTGCCAAAGCTCAAGGCTGTGTTTGACTGTGTGGTGAACTCACT
  TAAAAACGTCTTCAACATCCTCATCGTCTACATGCTATTCATGTTCATCTTCGCCGTGGTGGCTGTGCAG
  CTCTTCAAGGGGAAATTCTTCCACTGCACTGACGAGTCCAAAGAGTTTGAGAAAGATTGTCGAGGCAAAT
  ACCTCCTCTACGAGAAGAATGAGGTGAAGGCGCGAGACCGGGAGTGGAAGAAGTATGAATTCCATTACGA
  CAATGTGCTGTGGGCTCTGCTGACCCTCTTCACCGTGTCCACGGGAGAAGGCTGGCCACAGGTCCTCAAG
  CATTCGGTGGACGCCACCTTTGAGAACCAGGGCCCCAGCCCCGGGTACCGCATGGAGATGTCCATTTTCT
  ACGTCGTCTACTTTGTGGTGTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCCTTGATCATCATCACCTT
  CCAGGAGCAAGGGGACAAGATGATGGAGGAATACAGCCTGGAGAAAAATGAGAGGGCCTGCATTGATTTC
  GCCATCAGCGCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAGCTTCCAGTACCGCATGTGGC
  AGTTCGTGGTGTCTCCGCCTTTCGAGTACACGATCATGGCCATGATCGCCCTCAACACCATCGTGCTTAT
  GATGAAGTTCTATGGGGCTTCTGTTGCTTATGAAAATGCCCTGCGGGTGTTCAACATCGTCTTCACCTCC
  CTCTTCTCTCTGGAATGTGTGCTGAAAGTCATGGCTTTTGGGATTCTGAATTATTTCCGCGATGCCTGGA
  ACATCTTCGACTTTGTGACTGTTCTGGGCAGCATCACCGATATCCTCGTGACTGAGTTTGGGAATCCGAA
  TAACTTCATCAACCTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGGT
  TACACCATCCGCATTCTTCTCTGGACCTTTGTGCAGTCCTTCAAGGCCCTGCCTTATGTCTGTCTGCTGA
  TCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGTTTGGTAACATTGGCATCGACGTGGA
  GGACGAGGACAGTGATGAAGATGAGTTCCAAATCACTGAGCACAATAACTTCCGGACCTTCTTCCAGGCC
  CTCATGCTTCTCTTCCGGAGTGCCACCGGGGAAGCTTGGCACAACATCATGCTTTCCTGCCTCAGCGGGA
  AACCGTGTGATAAGAACTCTGGCATCCTGACTCGAGAGTGTGGCAATGAATTTGCTTATTTTTACTTTGT
  TTCCTTCATCTTCCTCTGCTCGTTTCTGATGCTGAATCTCTTTGTCGCCGTCATCATGGACAACTTTGAG
  TACCTCACCCGAGACTCCTCCATCCTGGGCCCCCACCACCTGGATGAGTACGTGCGTGTCTGGGCCGAGT
  ATGACCCCGCAGCTTGGGGCCGCATGCCTTACCTGGACATGTATCAGATGCTGAGACACATGTCTCCGCC
  CCTGGGTCTGGGGAAGAAGTGTCCGGCCAGAGTGGCTTACAAGCGGCTTCTGCGGATGGACCTGCCCGTC
  GCAGATGACAACACCGTCCACTTCAATTCCACCCTCATGGCTCTGATCCGCACAGCCCTGGACATCAAGA
  TTGCCAAGGGAGGAGCCGACAAACAGCAGATGGACGCTGAGCTGCGGAAGGAGATGATGGCGATTTGGCC
  CAATCTGTCCCAGAAGACGCTAGACCTGCTGGTCACACCTCACAAGTCCACGGACCTCACCGTGGGGAAG
  ATCTACGCAGCCATGATGATCATGGAGTACTACCGGCAGAGCAAGGCCAAGAAGCTGCAGGCCATGCGCG
  AGGAGCAGGACCGGACACCCCTCATGTTCCAGCGCATGGAGCCCCCGTCCCCAACGCAGGAAGGGGGACC
  TGGCCAGAACGCCCTCCCCTCCACCCAGCTGGACCCAGGAGGAGCCCTGATGGCTCACGAAAGCGGCCTC
  AAGGAGAGCCCGTCCTGGGTGACCCAGCGTGCCCAGGAGATGTTCCAGAAGACGGGCACATGGAGTCCGG
  AACAAGGCCCCCCTACCGACATGCCCAACAGCCAGCCTAACTCTCAGTCCGTGGAGATGCGAGAGATGGG
  CAGAGATGGCTACTCCGACAGCGAGCACTACCTCCCCATGGAAGGCCAGGGCCGGGCTGCCTCCATGCCC
  CGCCTCCCTGCAGAGAACCAGAGGAGAAGGGGCCGGCCACGTGGGAATAACCTCAGTACCATCTCAGACA
  CCAGCCCCATGAAGCGTTCAGCCTCCGTGCTGGGCCCCAAGGCCCGACGCCTGGACGATTACTCGCTGGA
  GCGGGTCCCGCCCGAGGAGAACCAGCGGCACCACCAGCGGCGCCGCGACCGCAGCCACCGCGCCTCTGAG
  CGCTCCCTGGGCCGCTACACCGATGTGGACACAGGCTTGGGGACAGACCTGAGCATGACCACCCAATCCG
  GGGACCTGCCGTCGAAGGAGCGGGACCAGGAGCGGGGCCGGCCCAAGGATCGGAAGCATCGACAGCACCA
  CCACCACCACCACCACCACCACCATCCCCCGCCCCCCGACAAGGACCGCTATGCCCAGGAACGGCCGGAC
  CACGGCCGGGCACGGGCTCGGGACCAGCGCTGGTCCCGCTCGCCCAGCGAGGGCCGAGAGCACATGGCGC
  ACCGGCAG
  
  ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT
  ACAAGGATGACGACGATAAGGTTTAA
  Protein Sequence

  >RC214314 representing NM_000068
  Red=Cloning site Green=Tags(s)
  
  MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQN
  CLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYF
  IGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIP
  SLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPART
  CPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFF
  MLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA
  LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFY
  WTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVII
  GSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFAL
  LGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLF
  GNYTLLNVFLAIAVDNLANAQELTKVEADEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKN
  QKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTN
  KSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAR
  EGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERR
  ARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLST
  TRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNP
  QNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVN
  KNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMS
  SIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVA
  FAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQ
  LFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLK
  HSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDF
  AISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTS
  LFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNPNNFINLSFLRLFRAARLIKLLRQG
  YTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQA
  LMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFE
  YLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPV
  ADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGK
  IYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGL
  KESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMP
  RLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASE
  RSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPD
  HGRARARDQRWSRSPSEGREHMAHRQ
  
  TRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene Plasmid Map
• ACCN: NM_000068
• ORF Size: 6798 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 and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
• Reconstitution: 1. Centrifuge at 5,000xg for 5min.
  2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA.
  3. Close the tube and incubate for 10 minutes at room temperature.
  4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom.
  5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.

Reference Data

• RefSeq: NM_000068.4
• RefSeq Size: 8641 bp
• RefSeq ORF: 6801 bp
• Locus ID: 773
• UniProt ID: O00555
• Cytogenetics: 19p13.13
• Protein Families: Druggable Genome, Ion Channels: Calcium, Transmembrane
• Protein Pathways: Calcium signaling pathway, Long-term depression, MAPK signaling pathway, Taste transduction, Type II diabetes mellitus
• MW: 257.3 kDa
• Gene Summary: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]