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Huntingtin

   Also found in: Wikipedia 0.01 sec.
Huntingtin
A protein of unknown function encoded by the HD gene. The repeated CAG sequence in a defective HD gene causes the body to produce an abnormal form of huntingtin. It is not yet known why the abnormal form of huntingtin affects only certain regions of the brain.
Mentioned in: Huntington Disease


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Huntington's disease is a hereditary condition caused by a mutated huntingtin gene that creates a misfolded, and therefore dysfunctional, protein.
Ultrastructural studies of brains of HD transgenic mice revealed neuronal intranuclear inclusion that contained aggregated huntingtin protein with granular or fibrillar morphology.
Scientists identified a mutant form of the protein huntingtin as the culprit in Huntington's disease in 1993.
 
 
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