Huntingtin protein

Huntingtin gene (also known as HTT or IT15) is a gene in humans that encodes the protein Huntingtin. This gene is located on the short arm of chromosome 4 (4p16.3). The Huntingtin gene is associated with Huntington's disease, a neurodegenerative disorder characterized by the progressive loss of brain cells.

Function

The exact function of the Huntingtin protein is not fully understood. However, it is known to play a crucial role in nerve cells (neurons) in the brain. The protein is involved in various cellular activities such as transporting materials, signaling, and protecting against cell death.

Structure

The Huntingtin gene is made up of 67 exons and spans approximately 180,000 base pairs. The gene produces a protein that consists of 3144 amino acids. The N-terminal region of the protein contains a series of repeats of the amino acid glutamine.

Huntington's Disease

Mutations in the Huntingtin gene cause Huntington's disease. These mutations involve an expansion of a CAG trinucleotide repeat in the DNA sequence of the Huntingtin gene. Normal individuals have 10-35 repeats, while individuals with Huntington's disease usually have 40 or more repeats. The expanded repeat produces a protein with an abnormally long glutamine chain, leading to the formation of clumps of protein within neurons, which are believed to cause the symptoms of Huntington's disease.

Research

Research into the Huntingtin gene and its associated protein has provided valuable insights into the mechanisms of neurodegenerative diseases. Current research is focused on understanding the normal function of the Huntingtin protein, how the mutated protein causes disease, and developing potential treatments for Huntington's disease.

See also

• Huntington's disease
• Neurodegenerative diseases
• Genetic disorders
• Protein structure