Huntingtin (HTT) is a large (350 kDa) protein essential for embryonic development and is involved in a variety of cellular functions, such as vesicular transport, endocytosis, transcription regulation and autophagy. Mutation in the associated gene — IT15 — results in an expansion of the polyQ tract found within the N-terminal region of the perspective protein. Such pathological growth, which surpasses the treshold of 36 glutamine residues, may lead to the development of Huntington disease. The mutation becomes fully penetrant at ≥40 glutamine residues. Mutant huntingtin (mHTT) is prone to aggregation. Yet, despite its ubiquitous expression, mHTT affects primarily the GABAergic medium spiny neurons of striatum and to a lesser extent the neurons of cerebral cortex.
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Function
Disease
Relevance
Structural highlights
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