Huntingtin is a protein produced by the HTT gene, located on chromosome 4 in humans. It plays a crucial role in various cellular processes, including neuronal development and function. The protein is essential for the survival of neurons, which are the cells responsible for transmitting signals in the brain and nervous system.
Mutations in the HTT gene can lead to the production of an abnormal form of huntingtin, which is associated with Huntington's disease. This neurodegenerative disorder causes progressive motor dysfunction, cognitive decline, and psychiatric symptoms. Understanding huntingtin's normal function helps researchers explore potential treatments for conditions related to its dysfunction.