Huntingtin - Wikipedia Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage
Hereditary hemorrhagic telangiectasia - Wikipedia 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 abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain [1][2]
Hereditary hemorrhagic telangiectasia - Symptoms and causes Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is a condition that's passed through families, called inherited It causes atypical links between arteries and veins called arteriovenous malformations (AVMs) The most common sites AVMs affect are the skin, nose, digestive system, lungs, brain and liver AVMs may get larger over time
HTT huntingtin [Homo sapiens (human)] - Gene - NCBI Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product
The HTT Gene: Function, Mutation, and Huntington’s Disease The HTT gene, or huntingtin gene, holds the instructions for creating a protein called huntingtin This protein is produced in cells throughout the body but is most active within the brain The huntingtin protein is necessary for the normal development of an embryo before birth and is particularly active in nerve cells, known as neurons
Huntingtons disease - MedlinePlus Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition) Adult-onset Huntington's disease, the most common form of this disorder, usually appears in a person's thirties or forties
The HTT Gene - Huntingtons Victoria – Huntington’s Victoria The HTT gene, located on Chromosome 4, provides instructions for producing a vital protein called huntingtin While the precise role of this protein remains unclear, it holds significance in nerve cells (neurons) within the brain and is crucial for normal development before birth
The biological function of the Huntingtin protein and its relevance to . . . Huntington’s Disease (HD) is a progressive and disabling neurodegenerative disorder of the central nervous system, affecting approximately 1 in 10,000 individuals [1] Patients suffer from motor, cognitive, and behavioural disturbances arising at a mean age of 35 years
Cure HHT - The Cornerstone of the HHT Community 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