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Interesting Transcript 15 gene (IT15) or Huntingtin gene

Mutant gene in Huntington's disease.

Related

Huntington's disease [HD] protein (huntingtin) or IT15 protein

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: huntingtin SIZE: entity length = 11 KB MOTIF: transcription factor binding site transcriptional start site exon MOTIF: trinucleotide repeat intron transcriptional termination site

References

  1. HD Collaborative A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell. 1993 Mar 26;72(6):971-83. PMID: 8458085
  2. Morell V. Huntington's gene finally found. Science. 1993 Apr 2;260(5104):28-30. No abstract available. PMID: 8465196
  3. Little P. Huntington's disease. The end of the beginning. Nature. 1993 Apr 1;362(6419):408-9. No abstract available. PMID: 8464469
  4. Ross CA, McInnis MG, Margolis RL, Li SH. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 1993 Jul;16(7):254-60. Review. PMID: 7689767