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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
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
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
Regulation of HTT mRNA Biogenesis: The Norm and Pathology
In this review, we discuss the features of transcriptional regulation and processing that lead to the formation of various HTT mRNA variants, each of which may uniquely contribute to the progression of the disease
Entry - *613004 - HUNTINGTIN; HTT - OMIM - (OMIM. ORG)
The HTT gene encodes huntingtin, a ubiquitously expressed nuclear protein that binds to a number of transcription factors to regulate transcription
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
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