Aliases: ACTININ-4, FSGS, FSGS1
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
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).
This gene encoded a F-actin cross-linking protein that is thought to anchor actin to a variety of intracellular structures.