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. 2017 Aug 31;101(3):478–484. doi: 10.1016/j.ajhg.2017.08.004

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.