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

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Function

Expression

  • widely expressed in brain & peripheral tissues
  • expressed in neurons & to a lesser extent glia throughout the brain

Pathology

Laboratory

Comparative biology

More general terms

Additional terms

Component of

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: https://www.ncbi.nlm.nih.gov/pubmed/8458085
  2. Morell V. Huntington's gene finally found. Science. 1993 Apr 2;260(5104):28-30. No abstract available. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8465196
  3. Little P. Huntington's disease. The end of the beginning. Nature. 1993 Apr 1;362(6419):408-9. No abstract available. PMID: https://www.ncbi.nlm.nih.gov/pubmed/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: https://www.ncbi.nlm.nih.gov/pubmed/7689767
  5. 5.0 5.1 White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec;17(4):404-10. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9398841
  6. 6.0 6.1 Harjes P, Wanker EE. The hunt for huntingtin function: interaction partners tell many different stories. Trends Biochem Sci. 2003 Aug;28(8):425-33. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12932731
  7. Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3064
  8. 8.0 8.1 Sedlak TW, Snyder SH. Messenger molecules and cell death: therapeutic implications. JAMA. 2006 Jan 4;295(1):81-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16391220
  9. 9.0 9.1 Subramaniam S et al Rhes, a Striatal Specific Protein, Mediates Mutant- Huntingtin Cytotoxicity Science. 2009 Jun 5;324(5932):1327-1330. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19498170 DOI:http://dx.doi.org/ 10.1126/science.1172871

Database