Huntingtin
Huntingtin (pronounced: hun-ting-tin) is a protein encoded by the HTT gene in humans. It is associated with Huntington's disease, a neurodegenerative disorder.
Pronunciation
The term is pronounced as "hun-ting-tin".
Etymology
The term "Huntingtin" is derived from the name of the disease it is associated with, Huntington's disease, which was named after the American physician George Huntington who first described the condition.
Function
Huntingtin is a protein found in many parts of the body and in all cells. The exact function of this protein is not fully understood, but it is known to play a crucial role in nerve cells (neurons) in the brain.
Huntington's Disease
Huntingtin is best known for its association with Huntington's disease. This is a genetic disorder that results in the death of brain cells. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow.
Related Terms
- HTT gene: The gene that encodes the huntingtin protein.
- Neurodegenerative disorders: A range of disorders, including Huntington's disease, which involve the progressive loss of structure or function of neurons, including death of neurons.
- Protein: Large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs.
External links
- Medical encyclopedia article on Huntingtin
- Wikipedia's article - Huntingtin
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