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.

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 is essential for normal development before birth.

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, is repeated at least 40 times.

Aug 23, 2023 · Huntington disease is an autosomal dominant disorder caused by the elongation of CAG repeats on the short arm of chromosome 4p16.3 in the HTT gene. The gene encodes for the HTT protein, which plays a role in the synaptic function and also plays a crucial role in the post-embryonic period.

May 6, 2019 · IONIS-HTT Rx (hereafter, HTT Rx) is an antisense oligonucleotide designed to inhibit HTT messenger RNA and thereby reduce concentrations of mutant huntingtin. We conducted a randomized,...

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.

Mar 30, 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 expression (Transcription) and Transcriptional Regulation by MECP2.

Apr 7, 2025 · 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.

HD is a rare, adult-onset, autosomal dominant, progressive neurodegenerative disease. George Huntington (Figure 1) was the first person to provide a comprehensive description of adult-onset HD...

Huntington’s disease (HD) is caused by an expansion of a CAG repeat in the gene that encodes the huntingtin protein (HTT). The exact function of HTT is still not fully understood, and previous studies have mainly focused on identifying proteins that interact with HTT to …