| Primary Identifier | IPR024613 | Type | Repeat |
| Short Name | Huntingtin_middle-repeat |
| description | This repeated domain is less than 40 amino acids in length and is present in huntingtin protein (Htt). Htt is expressed in many tissues, with various expression levels and is involved in a number of cellular functions. However, its exact function is not yet clear. An abnormal polyglutamine (polyQ) expansion in this protein causes Huntington's disease (HD), a progressive autosomal-dominant neurodegenerative disease characterised by an uncontrolled motor movement known as chorea, cognitive disorder and depression []. Htt consists of multiple HEAT repeats organised in N-terminal, bridge and C-terminal domains [, ], which function as a scaffold that mediates interactions with binding partners. This domain connects the N- and C-HEAT domains. |
