A team with the participation of researchers from the Institute for Advanced Chemistry of Catalonia (IQAC) of the Spanish National Research Council (CSIC) has revealed the structure of the protein responsible for Huntington's ...
Apr 20, 2023
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Huntington's disease is a genetic neurodegenerative disorder caused by mutations in the protein huntingtin and characterized by involuntary dance-like movements, severe behavioral changes and cognitive impairment. That neuronal ...
Apr 13, 2021
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An MDC research team reports in the journal Molecular Cell that short protein fibers precede the formation of larger deposits that accumulate in the brains of those affected by the incurable Huntington's disease, sometimes ...
Sep 6, 2018
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Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center—the nucleus—appear to be a ...
May 4, 2017
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A new scientific study reveals one way to stop proteins from triggering an energy failure inside nerve cells during Huntington's disease. Huntington's disease is an inherited genetic disorder caused by mutations in the gene ...
Sep 13, 2016
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We've known for years that the Huntingtin protein (Htt) is responsible for Huntington's disease, a neurodegenerative disorder that diminishes a person's mental and physical abilities.
Oct 16, 2015
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It has been more than 20 years since scientists discovered that mutations in the gene huntingtin cause the devastating progressive neurological condition Huntington's disease, which involves involuntary movements, emotional ...
Aug 12, 2014
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Researchers believe they have learned how mutations in the gene that causes Huntington's disease kill brain cells, a finding that could open new opportunities for treating the fatal disorder. Scientists first linked the gene ...
Jun 23, 2014
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(Medical Xpress)—Scientists at the University of Pittsburgh School of Medicine have identified for the first time a key molecular mechanism by which the abnormal protein found in Huntington's disease can cause brain cell ...
May 19, 2014
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(Medical Xpress)—An experiment just launched into orbit by a team of Caltech researchers could be an important step toward understanding a devastating neurodegenerative disease.
Apr 21, 2014
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More reference expression data
The Huntingtin gene, also called HTT or HD (Huntington disease) gene, or the IT15 ("interesting transcript 15") gene codes for a 348 kDa protein called the huntingtin protein.
It is variable in its structure as there are many polymorphisms of the gene which can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, it contains 6-35 glutamine residues, however, in individuals affected by Huntington's Disease (an autosomal dominant genetic disorder), it contains greater than 36 glutamine residues (highest reported repeat length is about 250). It's commonly used name is derived from this disease, previously the IT15 label was commonly used. Huntingtin has a predicted mass about 350 kDa, however, this varies and is largely dependent on the number of glutamine residues in the protein. Normal huntingtin is generally accepted to be 3144 amino acids in size.
The exact function of this protein is not known, but it plays an important role in nerve cells. Within cells, huntingtin may be involved in signaling, transporting materials, binding proteins and other structures, and protecting against programmed cell death (apoptosis). The huntingtin protein is required for normal development before birth. It is expressed in many tissues in the body, with the highest levels of expression seen in the brain.
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