Huntington’s disease

Huntingtin protein is a protein that in humans is encoded by the HTT gene. It is widely expressed in human tissues, with the highest levels found in the brain. The function of the huntingtin protein is not fully understood, but it is known to play a crucial role in nerve cells (neurons) in the brain.

Structure

The huntingtin protein is a large protein, consisting of 3144 amino acids. It has a molecular weight of approximately 350 kDa. The protein has several regions that are rich in the amino acids proline, serine, and glutamine.

Function

The exact function of the huntingtin protein is not fully understood. However, it is known to be involved in several important cellular functions, including intracellular signaling, transport of vesicles, and prevention of apoptosis (programmed cell death). The huntingtin protein is also thought to play a role in the regulation of gene transcription, the process by which genetic information is copied from DNA to RNA.

Role in Disease

Mutations in the HTT gene that encodes the huntingtin protein are responsible for Huntington's disease, a neurodegenerative disorder characterized by movement disorders, cognitive decline, and psychiatric symptoms. The mutation involves an expansion of a CAG trinucleotide repeat in the gene. This results in an abnormally long polyglutamine tract in the huntingtin protein, which leads to the formation of protein aggregates and neuronal cell death.

Research

Research into the huntingtin protein and its role in disease is ongoing. Understanding the normal function of the protein and how mutations lead to disease may lead to the development of new treatments for Huntington's disease.

See also

• Huntington's disease
• HTT gene
• Protein structure
• Gene transcription