CACNA1A (NM_001127221) Human Tagged ORF Clone

CAT#: RG226481

CACNA1A (tGFP-tagged) - Human calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 3

Product Images

Circular map for RG226481

Specifications

Product Data

• Type: Human Tagged ORF Clone
• Tag: TurboGFP
• Symbol: CACNA1A
• Synonyms: APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2; EIEE42; FHM; HPCA; MHP; MHP1; SCA6
• Vector: pCMV6-AC-GFP
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  ORF Nucleotide Sequence

  >RG226481 representing NM_001127221
  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
  CCAAGGACGAGCAAGAGGAAGAAGAAGCAGCGAACCAGAAACTTGCCCTACAGAAAGCCAAGGAGGTGGC
  AGAAGTGAGTCCTCTGTCCGCGGCCAACATGTCTATAGCTGTGAAAGAGCAACAGAAGAATCAAAAGCCA
  GCCAAGTCCGTGTGGGAGCAGCGGACCAGTGAGATGCGAAAGCAGAACTTGCTGGCCAGCCGGGAGGCCC
  TGTATAACGAAATGGACCCGGACGAGCGCTGGAAGGCTGCCTACACGCGGCACCTGCGGCCAGACATGAA
  GACGCACTTGGACCGGCCGCTGGTGGTGGACCCGCAGGAGAACCGCAACAACAACACCAACAAGAGCCGG
  GCGGCCGAGCCCACCGTGGACCAGCGCCTCGGCCAGCAGCGCGCCGAGGACTTCCTCAGGAAACAGGCCC
  GCTACCACGATCGGGCCCGGGACCCCAGCGGCTCGGCGGGCCTGGACGCACGGAGGCCCTGGGCGGGAAG
  CCAGGAGGCCGAGCTGAGCCGGGAGGGACCCTACGGCCGCGAGTCGGACCACCACGCCCGGGAGGGCAGC
  CTGGAGCAACCCGGGTTCTGGGAGGGCGAGGCCGAGCGAGGCAAGGCCGGGGACCCCCACCGGAGGCACG
  TGCACCGGCAGGGGGGCAGCAGGGAGAGCCGCAGCGGGTCCCCGCGCACGGGCGCGGACGGGGAGCATCG
  ACGTCATCGCGCGCACCGCAGGCCCGGGGAGGAGGGTCCGGAGGACAAGGCGGAGCGGAGGGCGCGGCAC
  CGCGAGGGCAGCCGGCCGGCCCGGGGCGGCGAGGGCGAGGGCGAGGGCCCCGACGGGGGCGAGCGCAGGA
  GAAGGCACCGGCATGGCGCTCCAGCCACGTACGAGGGGGACGCGCGGAGGGAGGACAAGGAGCGGAGGCA
  TCGGAGGAGGAAAGAGAACCAGGGCTCCGGGGTCCCTGTGTCGGGCCCCAACCTGTCAACCACCCGGCCA
  ATCCAGCAGGACCTGGGCCGCCAAGACCCACCCCTGGCAGAGGATATTGACAACATGAAGAACAACAAGC
  TGGCCACCGCGGAGTCGGCCGCTCCCCACGGCAGCCTTGGCCACGCCGGCCTGCCCCAGAGCCCAGCCAA
  GATGGGAAACAGCACCGACCCCGGCCCCATGCTGGCCATCCCTGCCATGGCCACCAACCCCCAGAACGCC
  GCCAGCCGCCGGACGCCCAACAACCCGGGGAACCCATCCAATCCCGGCCCCCCCAAGACCCCCGAGAATA
  GCCTTATCGTCACCAACCCCAGCGGCACCCAGACCAATTCAGCTAAGACTGCCAGGAAACCCGACCACAC
  CACAGTGGACATCCCCCCAGCCTGCCCACCCCCCCTCAACCACACCGTCGTACAAGTGAACAAAAACGCC
  AACCCAGACCCACTGCCAAAAAAAGAGGAAGAGAAGAAGGAGGAGGAGGAAGACGACCGTGGGGAAGACG
  GCCCTAAGCCAATGCCTCCCTATAGCTCCATGTTCATCCTGTCCACGACCAACCCCCTTCGCCGCCTGTG
  CCATTACATCCTGAACCTGCGCTACTTTGAGATGTGCATCCTCATGGTCATTGCCATGAGCAGCATCGCC
  CTGGCCGCCGAGGACCCTGTGCAGCCCAACGCACCTCGGAACAACGTGCTGCGATACTTTGACTACGTTT
  TTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGATGATTGACCTGGGGCTCGTCCTGCATCAGGGTGC
  CTACTTCCGTGACCTCTGGAATATTCTCGACTTCATAGTGGTCAGTGGGGCCCTGGTAGCCTTTGCCTTC
  ACTGGCAATAGCAAAGGAAAAGACATCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTC
  TTAAAACCATCAAGCGGCTGCCAAAGCTCAAGGCTGTGTTTGACTGTGTGGTGAACTCACTTAAAAACGT
  CTTCAACATCCTCATCGTCTACATGCTATTCATGTTCATCTTCGCCGTGGTGGCTGTGCAGCTCTTCAAG
  GGGAAATTCTTCCACTGCACTGACGAGTCCAAAGAGTTTGAGAAAGATTGTCGAGGCAAATACCTCCTCT
  ACGAGAAGAATGAGGTGAAGGCGCGAGACCGGGAGTGGAAGAAGTATGAATTCCATTACGACAATGTGCT
  GTGGGCTCTGCTGACCCTCTTCACCGTGTCCACGGGAGAAGGCTGGCCACAGGTCCTCAAGCATTCGGTG
  GACGCCACCTTTGAGAACCAGGGCCCCAGCCCCGGGTACCGCATGGAGATGTCCATTTTCTACGTCGTCT
  ACTTTGTGGTGTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCCTTGATCATCATCACCTTCCAGGAGCA
  AGGGGACAAGATGATGGAGGAATACAGCCTGGAGAAAAATGAGAGGGCCTGCATTGATTTCGCCATCAGC
  GCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAGCTTCCAGTACCGCATGTGGCAGTTCGTGG
  TGTCTCCGCCTTTCGAGTACACGATCATGGCCATGATCGCCCTCAACACCATCGTGCTTATGATGAAGTT
  CTATGGGGCTTCTGTTGCTTATGAAAATGCCCTGCGGGTGTTCAACATCGTCTTCACCTCCCTCTTCTCT
  CTGGAATGTGTGCTGAAAGTCATGGCTTTTGGGATTCTGAATTATTTCCGCGATGCCTGGAACATCTTCG
  ACTTTGTGACTGTTCTGGGCAGCATCACCGATATCCTCGTGACTGAGTTTGGGAATAACTTCATCAACCT
  GAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGGTTACACCATCCGCATT
  CTTCTCTGGACCTTTGTGCAGTCCTTCAAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCT
  TCATCTATGCCATCATTGGGATGCAGGTGTTTGGTAACATTGGCATCGACGTGGAGGACGAGGACAGTGA
  TGAAGATGAGTTCCAAATCACTGAGCACAATAACTTCCGGACCTTCTTCCAGGCCCTCATGCTTCTCTTC
  CGGAGTGCCACCGGGGAAGCTTGGCACAACATCATGCTTTCCTGCCTCAGCGGGAAACCGTGTGATAAGA
  ACTCTGGCATCCTGACTCGAGAGTGTGGCAATGAATTTGCTTATTTTTACTTTGTTTCCTTCATCTTCCT
  CTGCTCGTTTCTGATGCTGAATCTCTTTGTCGCCGTCATCATGGACAACTTTGAGTACCTCACCCGAGAC
  TCCTCCATCCTGGGCCCCCACCACCTGGATGAGTACGTGCGTGTCTGGGCCGAGTATGACCCCGCAGCTT
  GCGGTCGGATTCATTATAAGGATATGTACAGTTTATTACGAGTAATATCTCCCCCTCTCGGCTTAGGCAA
  GAAATGTCCTCATAGGGTTGCTTGCAAGCGGCTTCTGCGGATGGACCTGCCCGTCGCAGATGACAACACC
  GTCCACTTCAATTCCACCCTCATGGCTCTGATCCGCACAGCCCTGGACATCAAGATTGCCAAGGGAGGAG
  CCGACAAACAGCAGATGGACGCTGAGCTGCGGAAGGAGATGATGGCGATTTGGCCCAATCTGTCCCAGAA
  GACGCTAGACCTGCTGGTCACACCTCACAAGTCCACGGACCTCACCGTGGGGAAGATCTACGCAGCCATG
  ATGATCATGGAGTACTACCGGCAGAGCAAGGCCAAGAAGCTGCAGGCCATGCGCGAGGAGCAGGACCGGA
  CACCCCTCATGTTCCAGCGCATGGAGCCCCCGTCCCCAACGCAGGAAGGGGGACCTGGCCAGAACGCCCT
  CCCCTCCACCCAGCTGGACCCAGGAGGAGCCCTGATGGCTCACGAAAGCGGCCTCAAGGAGAGCCCGTCC
  TGGGTGACCCAGCGTGCCCAGGAGATGTTCCAGAAGACGGGCACATGGAGTCCGGAACAAGGCCCCCCTA
  CCGACATGCCCAACAGCCAGCCTAACTCTCAGTCCGTGGAGATGCGAGAGATGGGCAGAGATGGCTACTC
  CGACAGCGAGCACTACCTCCCCATGGAAGGCCAGGGCCGGGCTGCCTCCATGCCCCGCCTCCCTGCAGAG
  AACCAGAGGAGAAGGGGCCGGCCACGTGGGAATAACCTCAGTACCATCTCAGACACCAGCCCCATGAAGC
  GTTCAGCCTCCGTGCTGGGCCCCAAGGCCCGACGCCTGGACGATTACTCGCTGGAGCGGGTCCCGCCCGA
  GGAGAACCAGCGGCACCACCAGCGGCGCCGCGACCGCAGCCACCGCGCCTCTGAGCGCTCCCTGGGCCGC
  TACACCGATGTGGACACAGGCTTGGGGACAGACCTGAGCATGACCACCCAATCCGGGGACCTGCCGTCGA
  AGGAGCGGGACCAGGAGCGGGGCCGGCCCAAGGATCGGAAGCATCGACAGCACCACCACCACCACCACCA
  CCACCACCATCCCCCGCCCCCCGACAAGGACCGCTATGCCCAGGAACGGCCGGACCACGGCCGGGCACGG
  GCTCGGGACCAGCGCTGGTCCCGCTCGCCCAGCGAGGGCCGAGAGCACATGGCGCACCGGCAG
  
  ACGCGTACGCGGCCGCTCGAG - GFP Tag - GTTTAA
  Protein Sequence

  >RG226481 representing NM_001127221
  Red=Cloning site Green=Tags(s)
  
  MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQN
  CLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYF
  IGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIP
  SLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPART
  CPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFF
  MLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA
  LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFY
  WTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVII
  GSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFAL
  LGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLF
  GNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKP
  AKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSR
  AAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGS
  LEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARH
  REGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRP
  IQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNA
  ASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNA
  NPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIA
  LAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAF
  TGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFK
  GKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSV
  DATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAIS
  AKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFS
  LECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRI
  LLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLF
  RSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRD
  SSILGPHHLDEYVRVWAEYDPAACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNT
  VHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAM
  MIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPS
  WVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAE
  NQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGR
  YTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRAR
  ARDQRWSRSPSEGREHMAHRQ
  
  TRTRPLE - GFP Tag - V
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene Plasmid Map
• ACCN: NM_001127221
• ORF Size: 6783 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_001127221.2
• RefSeq Size: 8626 bp
• RefSeq ORF: 6786 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
• 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]