GSN
Homo sapiens
Gene Name: gelsolin
Aliases: RP11-477J21.1, ADF, AGEL, DKFZp313L0718
Chromosome No: 9
Chromosome Band: 9q33.2
Genetic Category: Rare single gene variant
Aliases: RP11-477J21.1, ADF, AGEL, DKFZp313L0718
Chromosome No: 9
Chromosome Band: 9q33.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo substitution variant in an intron of the GSN gene was identified in a proband with Asperger syndrome (Awadalla et al., 2010).
Molecular Function
The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
