Aliases: SH3D6A, dJ323M4.1
Chromosome No: 6
Chromosome Band: 6q24.3-q25.1
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
Two de novo missense variants in the SASH1 gene were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014); one of these variants was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene was identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 10/84,448 expected; hypergeometric P-value of 2.0E-03).
Molecular Function
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor.
External Links
