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 …

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to …

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) …

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 …

HHT disease is a genetic blood vessel disorder that affects 1 in 5,000 people - 90% of whom are undiagnosed. Our mission is to find a cure for HHT.

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, …

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 …

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.

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.