Huntingtin

Huntingtin is a protein that in humans is encoded by the HTT gene. It is the gene whose mutation is responsible for causing Huntington's disease, a neurodegenerative disorder. The gene and the protein are both named for their association with this disease.

Function

The huntingtin protein interacts with a multitude of other proteins, suggesting that it serves as a scaffolding protein that aids in the assembly of protein complexes. It is involved in many cellular activities such as transcription, protein trafficking, and cell signaling.

Structure

The huntingtin protein is a large 348 kDa protein that consists of 3144 amino acids. The protein has a large number of glutamine (Q) residues interspersed throughout its sequence, especially near the N-terminus.

Role in Disease

In Huntington's disease, a mutation occurs in the HTT gene that results in an abnormally long polyglutamine tract. This causes the huntingtin protein to fold improperly, leading to protein aggregation and cell death in neurons. The disease is characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms.

Research

Research into the function of the huntingtin protein and the pathogenesis of Huntington's disease is ongoing. Current research focuses on understanding the normal function of the protein, how the mutation leads to disease, and developing potential treatments.

See Also

• Huntington's disease
• Neurodegenerative disorders
• Protein aggregation

References

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