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 repeats, may lead to development of the Huntington disease. The mutation becomes fully penetrant at ≥40 CAG repeats.
You may include any references to papers as in: the use of JSmol in Proteopedia [1] or to the article describing Jmol [2] to the rescue.
Function
Disease
Relevance
Structural highlights
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