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- Huntingtin - Wikipedia
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
- Hereditary hemorrhagic telangiectasia - Symptoms and causes
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 50% chance of getting it If you have HHT, each of your children has a 50% chance of getting it from you
- The Genetics of Huntingtons Disease - Perelman School of Medicine at . . .
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 trinucleotide repeat
- HTT Gene - GeneCards | HD Protein | HD Antibody
HTT (Huntingtin) is a Protein Coding gene Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome Among its related pathways are Gene expression (Transcription) and Transcriptional Regulation by MECP2
- Huntington Disease | Learn Science at Scitable - Nature
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
- New Understanding of How Genetic Mutation Causes Huntington’s Disease
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, is repeated at least 40 times
- Normal Function of Huntingtin | Huntington’s Disease | Oxford Academic
Huntingtin (HTT) is the 3,144–amino acid protein product of the Huntington’s disease gene (HTT), which can be traced back through 800 million years of evolution
- HTT huntingtin - NIH Genetic Testing Registry (GTR) - 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
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