Aliases: ADCAII, FLJ17787, OPCA3, SCA7
Chromosome No: 3
Chromosome Band: 3p14.1
Genetic Category: Rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
Relevance to Autism
A de novo deletion of the ATXN7 gene was identified in an autistic proband from a simplex family (van Daalen et al., 2011).
Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Defects in ATXN7 are the cause of spinocerebellar ataxia type 7 (SCA7) [MIM:164500].