Huntingtin (HTT) (NM_002111) Human Untagged Clone

CAT#: SC318748

HTT (untagged)-Human huntingtin (HTT)

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: HTT
• Synonyms: HD; IT15; LOMARS
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >SC318748 representing NM_002111.
  Blue=Insert sequence Red=Cloning site Green=Tag(s)
  
  GCTCGTTTAGTGAACCGTCAGAATTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTG
  GATCCGGTACCGAGGAGATCTGCCGCCGCGATCGCC
  ATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAG
  CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCCGCCACCGCCGCCGCCG
  CCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCG
  CCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAA
  GAACTTTCAGCTACCAAGAAAGACCGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAG
  TCTGTCAGAAATTCTCCAGAATTTCAGAAACTTCTGGGCATCGCTATGGAACTTTTTCTGCTGTGCAGT
  GATGACGCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTGATG
  GATTCTAATCTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGTGCCCCTCGGAGT
  TTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACCTGGTTCGGCCTCAGAAATGCAGGCCTTAC
  CTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAGAGACCCGAAGAATCAGTCCAGGAGACCTTG
  GCTGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTG
  TTAAAGGCCTTCATAGCGAACCTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCA
  GTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCTTAGGC
  TTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTAT
  TTGGTGCCCTTGCTGCAGCAGCAGGTCAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAA
  GAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGACGTTACATCATACACAG
  CACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCC
  GAGCTTCTGCAAACCCTGACCGCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGT
  GGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGCTGGAGGGGGTTCCTCATGCAGCCCTGTCCTT
  TCAAGAAAACAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGA
  TCGGATGTCAGCAGCTCTGCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTGGCTGCTTCT
  TCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAGCCACGGTCACAGCACACA
  CTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAG
  GATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCATGGACCTGAATGAT
  GGGACCCAGGCCTCGTCGCCCATCAGCGACAGCTCCCAGACCACCACCGAAGGGCCTGATTCAGCTGTT
  ACCCCTTCAGACAGTTCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAGATTGGA
  CAGCCCCAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGGAAC
  TCTTCCATGGCCCTTCAACAGGCACATTTATTGAAAAACATGAGTCACTGCAGGCAGCCTTCTGACAGC
  AGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGATCAAGAAAACAAGCCTTGCCGC
  ATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTA
  TCTGCTTCGTTTTTGCTAACAGGGGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTG
  AAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCTTTCTTCAGCAAACTC
  TATAAAGTTCCTCTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATC
  GATCATGGAGACCCACAGGTTCGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCCATCCTC
  AGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATTAGAACCCTCACAGGAAATACATTTTCT
  TTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAGTCTTCTGTTACTTGCAAGTTAGCT
  TGTACAGCTGTGAGGAACTGTGTCATGAGTCTCTGCAGCAGCAGCTACAGTGAGTTAGGACTGCAGCTG
  ATCATCGATGTGCTGACTCTGAGGAACAGTTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTT
  GCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCTCAT
  CATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGAT
  GAAGACCCCAGGGTGCGACATGTTGCCGCAGCATCACTAATTAGGCTTGTCCCAAAGCTGTTTTATAAA
  TGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGCAGTGTTTACCTGAAACTT
  CTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGCACAATAACCAGAATATATAGAGGCTAT
  AACCTACTACCAAGCATAACAGACGTCACTATGGAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCT
  CATGAACTAATCACATCAACCACCAGAGCACTCACATTTGGATGCTGTGAAGCTTTGTGTCTTCTTTCC
  ACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGAT
  GAGTCTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTC
  CCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCC
  AAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGGTC
  TGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTG
  ATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCT
  CTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCA
  TCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGT
  CCTGTTACAACAAGTAAATCCTCATCACTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCAT
  GATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTT
  GGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATT
  GGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAATCCTGCTTTAGTCGAGAACCAATGATGGCAACT
  GTTTGTGTTCAACAATTGTTGAAGACTCTCTTTGGCACAAACTTGGCCTCCCAGTTTGATGGCTTATCT
  TCCAACCCCAGCAAGTCACAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTAC
  CACTACTGCTTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATG
  GTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCTACCCAGTTG
  AAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATTCATAATCACATTCGTTTG
  TTTGAACCTCTTGTTATAAAAGCTTTAAAACAGTACACGACTACAACATGTGTGCAGTTACAGAAGCAG
  GTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTACGGGTTAATTACTGTCTTCTGGATTCAGATCAGGTG
  TTTATTGGCTTTGTATTGAAACAGTTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATC
  ATTCCAAACATCTTTTTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGA
  ATTCCTAAAATCATTCAGCTCTGTGATGGCATCATGGCCAGTGGAAGGAAGGCTGTGACACATGCCATA
  CCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAACAAATAAAGCTGATGCAGGAAAA
  GAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTG
  GAGATGTTCATTCTTGTCCTGCAGCAGTGCCACAAGGAGAATGAAGACAAGTGGAAGCGACTGTCTCGA
  CAGATAGCTGACATCATCCTCCCAATGTTAGCCAAACAGCAGATGCACATTGACTCTCATGAAGCCCTT
  GGAGTGTTAAATACATTATTTGAGATTTTGGCCCCTTCCTCCCTCCGTCCGGTAGACATGCTTTTACGG
  AGTATGTTCGTCACTCCAAACACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTG
  GCCATTTTGAGGGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCC
  TTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTACTTCAACGCTA
  GAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAA
  CTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAAGGTGGAAATGAGTGAGCAGCAACAT
  ACTTTCTATTGCCAGGAACTAGGCACACTGCTAATGTGTCTGATCCACATCTTCAAGTCTGGAATGTTC
  CGGAGAATCACAGCAGCTGCCACTAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTG
  GACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGCCCTGGTGCTGCTCTGGTGTCAG
  ATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACAC
  AGTCTGTCCAGCACAAAGTTACTTAGTCCCCAGATGTCTGGAGAAGAGGAGGATTCTGACTTGGCAGCC
  AAACTTGGAATGTGCAATAGAGAAATAGTACGAAGAGGGGCTCTCATTCTCTTCTGTGATTATGTCTGT
  CAGAACCTCCATGACTCCGAGCACTTAACGTGGCTCATTGTAAATCACATTCAAGATCTGATCAGCCTT
  TCCCACGAGCCTCCAGTACAGGACTTCATCAGTGCCGTTCATCGGAACTCTGCTGCCAGCGGCCTGTTC
  ATCCAGGCAATTCAGTCTCGTTGTGAAAACCTTTCAACTCCAACCATGCTGAAGAAAACTCTTCAGTGC
  TTGGAGGGGATCCATCTCAGCCAGTCGGGAGCTGTGCTCACGCTGTATGTGGACAGGCTTCTGTGCACC
  CCTTTCCGTGTGCTGGCTCGCATGGTCGACATCCTTGCTTGTCGCCGGGTAGAAATGCTTCTGGCTGCA
  AATTTACAGAGCAGCATGGCCCAGTTGCCAATGGAAGAACTCAACAGAATCCAGGAATACCTTCAGAGC
  AGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTGCTGGACAGGTTTCGTCTCTCCACCATGCAA
  GACTCACTTAGTCCCTCTCCTCCAGTCTCTTCCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAA
  ACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCAGATTCT
  GCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAAC
  TCGGAGTTCAACCTAAGCCTGCTAGCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGTGGCCAG
  AAGAGTGCCCTTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTC
  CCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGAGCCGGCGGCCTACTGGAGCAAGTTGAAT
  GATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTG
  GTGGTGGTCTCCAAACTGCCCAGTCATTTGCACCTTCCTCCTGAGAAAGAGAAGGACATTGTGAAATTC
  GTGGTGGCAACCCTTGAGGCCCTGTCCTGGCATTTGATCCATGAGCAGATCCCGCTGAGTCTGGATCTC
  CAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACA
  GAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAG
  CCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAG
  GAAGTAGATCCAAACACACAGAATCCTAAGTATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTG
  GAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCA
  TTGCTAAGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCA
  CTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCC
  GTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACC
  AGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATG
  GAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCC
  ATCACCTCACTGGTGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAG
  CAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTTTGGGAGGAAGCTGAGCATTATCAGA
  GGGATTGTGGAGCAAGAGATTCAAGCAATGGTTTCAAAGAGAGAGAATATTGCCACCCATCATTTATAT
  CAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTG
  CTGCTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACAC
  TCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGGAGGAGGAATGGGACGAGGAAGAGGAGGAGGAG
  GCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTT
  GACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCC
  AGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACC
  GAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGAC
  GAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCC
  GTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGA
  GCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCG
  GTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCACTGCGTGAACATTCACAGCCAGCAG
  CACGTACTGGTCATGTGTGCCACTGCGTTTTACCTCATTGAGAACTATCCTCTGGACGTAGGGCCGGAA
  TTTTCAGCATCAATAATACAGATGTGTGGGGTGATGCTGTCTGGAAGTGAGGAGTCCACCCCCTCCATC
  ATTTACCACTGTGCCCTCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTGGATGCA
  GAATCGCTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCCGCACCGGGCCATGGCGGCTCTG
  GGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAAT
  CCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATC
  AGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTC
  CCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTC
  ATGGCCACCGTGGTGTATAAGGTGTTTCAGACTCTGCACAGCACCGGGCAGTCGTCCATGGTCCGGGAC
  TGGGTCATGCTGTCCCTCTCCAACTTCACGCAGAGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCC
  TGCTTCTTTGTCAGCGCGTCCACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGCAGGATG
  GGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTCGCCACAGACTTCTACAGACACCAGATA
  GAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATAT
  CACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGA
  ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGAT
  TACAAGGATGACGACGATAAGGTTTAAACGGCCGGC
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_002111
• Insert Size: 9435 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 TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.
• 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_002111.8
• RefSeq Size: 13498 bp
• RefSeq ORF: 9435 bp
• Locus ID: 3064
• UniProt ID: P42858
• Cytogenetics: 4p16.3
• Protein Families: Druggable Genome
• Protein Pathways: Huntington's disease
• MW: 347.9 kDa
• Gene Summary: Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]