| Primary Identifier | IPR030706 | Type | Family |
| Short Name | ATXN7 |
| description | Ataxin-7 (ATXN7) is a component of mammalian STAGA (SPT3-TAF9-ADA-GCN5 acetyltransferase) transcription co-activator complex []. Ataxin-7 associates with microtubules and stabilises the cytoskeletal network []. Normal ATXN7 contains 4-35 CAG repeats, whereas pathogenic variants show an expansion of 36-306 repeats of this CAG repeat encoding polyglutamine (polyQ) that causes spinocerebellar ataxia 7 (SCA7), a neurodegenerative disorder characterised by cerebellar ataxia associated with progressive macular dystrophy []. Polyglutamine-expanded ATXN7 inhibits STAGA histone acetyltransferase activity [, ]. |
