What is the function of protein produced by the HTT gene, which is mutated in Huntington’s disease?
The main function of the protein produced by the HTT gene, which is mutated in Huntington’s disease, is related to neuronal development and function. The huntingtin protein, when normally expressed, plays a crucial role in various cellular processes important for the health and function of nerve cells (neurons) in the brain. These include regulating the transport of materials within neurons, influencing the production of other proteins, and participating in the signaling pathways that are vital for neuronal survival and function. The mutation in the HTT gene leads to the production of an abnormal huntingtin protein with an expanded polyglutamine (polyQ) tract, which disrupts these normal functions and contributes to the neuronal degeneration observed in Huntington’s disease.
Problem:
What is the main function of the protein produced by the HTT gene, which is mutated in Huntington’s disease?
A) DNA repair
B) Immune response modulation
C) Neuronal development and function
D) Muscle contraction
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