ATXN7
Homo sapiens
Gene Name: Ataxin 7
Aliases: ADCAII, FLJ17787, OPCA3, SCA7
Chromosome No: 3
Chromosome Band: 3p14.1
Genetic Category: Rare single gene variant
Aliases: ADCAII, FLJ17787, OPCA3, SCA7
Chromosome No: 3
Chromosome Band: 3p14.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
|
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).
Molecular Function
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].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
ASD
