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: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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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
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
