About+Huntingtin

What is the official name of the //HTT// gene?
The official name of this gene is “huntingtin.” //HTT// is the gene's official symbol. The //HTT// gene is also known by other names.

Where is the HTT gene located?
Cytogenetic Location: 4p16.3 Molecular Location on chromosome 4: base pairs 3,076,407 to 3,245,686 The HTT gene is located on the short (p) arm of chromosome 4 at position 16.3. More precisely, the HTT gene is located from base pair 3,076,407 to base pair 3,245,686 on chromosome 4.


 * Normal Huntingtin function : an alternative approach to Huntington's disease**
 * - wild- type huntingtin and neuronal pathology**

Various experimental approaches have been used to investigate normal huntingtin function and its possible involvement in the pathogenesis of Huntington's disease. The data show that increased wild-type huntingtin expression leads to improved brain cell survival; removal of the wild-type protein generates some of the phenotypes observed in the presence of mutant huntingtin; wild-type huntingtin expression mitigates the effect of the mutant protein; and depletion of the wild-type protein in a Huntington's disease background causes more damage. Wild-type huntingtin is shown in green, mutant huntingtin in orange. **This is a short explanation by Pharmacological Sciences that explains loss of normal huntingtin function** Huntington's disease is characterized by a loss of brain striatal neurons that occurs as a consequence of an expansion of a CAG repeat in the huntingtin protein.The resulting extended polyglutamine stretch confers a deleterious gain-of-function to the protein. Analysis of the mutant protein has attracted most of the researchactivity in the field, however re-examination of earlier data and new results on the beneficial functions of normal huntingtin indicate that loss of the normal protein function might actually equally contribute to the pathology. Thus, complete elucidation of the physiological role(s) of huntingtin and its mode of action are essential and could lead to new therapeutic approaches.