Tag: HD

The Huntington gene, also called HTT or HD (Huntington disease) gene, is the IT15 (“interesting transcript 15”) gene which codes for a protein called the huntingtin protein. The gene and its product are under heavy investigation as part of Huntington’s disease clinical research.
It is variable in its structure, as there are many polymorphisms of the gene that 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). Its commonly used name is derived from this disease, previously the IT15 label was commonly used.
The mass of huntingtin protein is dependent largely on the number of glutamine residues it has, the predicted mass is around 350 kDa. Normal huntingtin is generally accepted to be 3144 amino acids in…

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