Primary Identifier | IPR040172 | Type | Family |
Short Name | ATXN1 |
description | Ataxin-1 (ATXN1) is involved in the formation and regulation of multimeric protein complexes within the nucleus []. It is the causative factor for spinocerebellar ataxia type 1 (SCA1), which manifests in poor co-ordination of hand and feet movement []. ATXN1 is a transcription repressor in the Notch signalling pathway []and colocalizes with the deubiquitinating enzyme USP7 in the nucleus []. |