Definition of «huntingtin protein»

The huntingtin protein, also known as HTT or HD, is a protein that is produced by the human body. It has an important role in various cellular processes such as regulating gene expression and maintaining proper brain function. The exact function of this protein is still not fully understood but it is believed to play a significant part in neuronal development and maintenance.

However, mutations in the huntingtin gene can lead to the production of an abnormal version of the huntingtin protein which can cause several neurological disorders such as Huntington's disease. This condition is characterized by uncontrolled movements, emotional problems, and loss of cognitive skills.

In summary, the huntingtin protein plays a crucial role in normal cellular processes but mutations in its gene can lead to severe neurological disorders such as Huntington's disease.

Phrases with «huntingtin protein»

Sentences with «huntingtin protein»

  • We simply measure levels of huntingtin protein in the cerebrospinal fluid before and after drug treatment. (en.hdbuzz.net)
  • Clumps of mutant huntingtin protein in brain cells are a hallmark of HD, and they build up slowly, occupying more and more cells over time. (en.hdbuzz.net)
  • We know that lowering the level of mutant huntingtin protein in HD mouse models significantly improves symptoms reminiscent of HD, providing hope that similar treatments in people may be effective. (en.hdbuzz.net)
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