Aliases: PPP1R6, PPP1R9, SPINO, Spn
Chromosome No: 17
Chromosome Band: 17q21.33
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
Three de novo missense variants, including two that were predicted to be damaging (defined as MPC 2), were identified in the PPP1R9B gene in ASD probands from the Autism Sequencing Consortium (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified PPP1R9B as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
Molecular Function
This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system.
External Links
