Table 2.
Gene Function for Candidate Genes with Clustered Mutations
| Gene Name | Summary of Gene Function | Interactions |
|---|---|---|
| ACTL6B | Belongs to the neuron-specific chromatin remodeling complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. | Complex formation with ACTB, ARID1A, SMARCA2, SMARCA4, SMARCE1, SMARCC1, SMARCC2, SMARCD2, SMARCB1 |
| GABBR2 | Postsynaptic GABAB receptor activity regulates excitatory neuronal architecture and spatial memory. | Heterodimerization is required for the formation of a functional GABA-B receptor. |
| PACS2 | Multifunctional sorting protein, controling endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis. | N/A |
Third column indicates whether the encoded protein has physical interactions with other proteins. See Table S9 for extended information.