Neurodegenerative diseases like Alzheimer's, Parkinson's or Huntington's disease are characterized by the deposition of protein clumps, so-called protein aggregates, in the brains of patients. Even though disease-relevant ...
Biochemistry
Oct 21, 2022
0
127
Huntington's chorea is a hereditary disease that leads to cognitive and motor impairments and death. Scientists at the University of Bremen have worked with international partners to elucidate the mechanism by which the mutated ...
Biochemistry
Aug 15, 2022
0
261
Mutations on a single gene, the huntingtin gene, are the cause of Huntington's disease. They lead to an incorrect form of the correspondent protein. With the help of cryo-electron microscopy researchers from the Max Planck ...
Biochemistry
Feb 22, 2018
0
42
Researchers at the Buck Institute have identified and categorized thousands of protein interactions involving huntingtin, the protein responsible for Huntington's disease (HD). To use an analogy of a human social network, ...
Biochemistry
Feb 27, 2014
0
5
(Medical Xpress) -- McMaster researchers have discovered a new drug target that may be effective at preventing the onset of Huntington's disease, working much the same way heart medications slow the progression of heart disease ...
Biochemistry
May 31, 2011
0
0
Researchers at the Department of Energy's Oak Ridge National Laboratory and the University of Tennessee have for the first time successfully characterized the earliest structural formation of the disease type of the protein ...
General Physics
May 18, 2011
0
0
In a paper published in the early online version of Nature Structural and Molecular Biology, researchers at the University of Pittsburgh School of Medicine deconstruct the first steps in an intricate molecular dance that ...
Cell & Microbiology
Mar 8, 2009
0
0
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.
This text uses material from Wikipedia, licensed under CC BY-SA
