Family

Ataxin-7 (IPR030706)

Short name: ATXN7

Family relationships

None.

Description

Ataxin-7 (ATXN7) is a component of mammalian STAGA (SPT3-TAF9-ADA-GCN5 acetyltransferase) transcription co-activator complex [PMID: 23892081]. Ataxin-7 associates with microtubules and stabilises the cytoskeletal network [PMID: 22100762]. 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 [PMID: 9288099]. Polyglutamine-expanded ATXN7 inhibits STAGA histone acetyltransferase activity [PMID: 15932940, PMID: 15932941].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER