Feb 7, 2025 · HHT is a condition of gene changes, called genetic, that you get from your parents. It is an autosomal dominant disorder. That means if one of your parents has HHT, you have a …

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The HTT gene provides instructions for making a protein called huntingtin. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) …

The Huntingtin (HTT) protein is a large, predominantly α-helical molecule composed of 3,144 amino acids and weighing approximately 348kDa in its canonical form.

Jun 18, 2024 · HHT is a disorder in which some blood vessels do not develop properly. A person with HHT may form abnormal capillaries or abnormal capillary connections between the …

Mutations in the HTT gene are responsible for Huntington's disease. This gene codes for the huntingtin protein and within the HTT gene is a DNA sequence known as the CAG …

Jan 16, 2025 · For 30 years, researchers have known that Huntington’s disease is caused by an inherited mutation in the Huntingtin (HTT) gene in which a three-letter DNA sequence, C-A-G, …

Today, researchers can literally "measure" the HD-associated gene, called huntingtin (HTT), by determining the number of repeats of a set of three specific bases within this gene.

Nov 13, 2025 · HTT (Huntingtin) is a Protein Coding gene. Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome. Among its related pathways are …

HD is a rare, fatal, genetic disease that causes the breakdown of nerve cells in the brain over time. HD affects a person’s mental, behavioral and physical abilities, including their ability to …