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) in the brain and …

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.

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 50% chance …

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 arteries and …

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 Gene …

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.

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 …

The HTT gene encodes huntingtin, a ubiquitously expressed nuclear protein that binds to a number of transcription factors to regulate transcription.

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.

Dec 20, 2023 · The Htt gene is responsible for encoding the huntingtin protein (Htt). Htt protein plays a vital role in various cellular processes, including transcriptional regulation and gene expression.