(Huntington Disease Protein)
Huntington's Disease is a human neurodegenerative disease characterized by uncontrolled movements and progressive dementia. The condition is due to a dominant gene and is not expressed until middle age. The gene has been localized to human chromosome 4. Huntington's Disease is one of several known human disorders associated with trinucleotide repeats, in this case a repeated CAG codon that produces a PolyQ (repeated glutamine residues) region in the protein. In the music, you will hear the sequence seem to stall temporarily in this repeated region. This region of the gene is susceptible to expansion that increases the number of glutamines to 100 or more. Severity of the disease increases with increased number of repeated glutamines. Huntington protein also contains a number of HEAT repeats; the acronym comes from four proteins in which these repeated sequences have been described. These HEAT repeat sequences fold up into a helix-turn-helix motif, and may serve as docking points for other proteins. The Huntington protein contains 10 copies of this 40-residue repeat.
Huntington Protein Sequence
(HEAT repeat regions)
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Sequence information: SwissProt
HEAT repeat reference: European Bioinformatics Institute