ACTN4
Homo sapiens
Gene Name: actinin alpha 4
Aliases: ACTININ-4, FSGS, FSGS1
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Aliases: ACTININ-4, FSGS, FSGS1
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
This gene encoded a F-actin cross-linking protein that is thought to anchor actin to a variety of intracellular structures.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
ASD-Associated De Novo Mutations in Five Actin Regulators Show Both Shared and Distinct Defects in Dendritic Spines and Inhibitory Synapses in Cult...
