Aliases: BAF155, CRACC1, Rsc8, SRG3, SWI3
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
SMARCC1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in three independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report. De novo missense variants in this gene had previously been identified in two ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014; Satterstrom et al., 2020).
Molecular Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors.
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