Fig. 3.

SHANK3 structure and function. A Genomic structure of SHANK3. Alternatively spliced exons are marked with an asterisk. The locations of protein motifs are shown above the gene. The breakpoint hotspot consists of a complex microsatellite (D22S163) and is the location of at least 3 independent deletion breakpoints. ‘Sequence uncertainty’ refers to a small stretch of sequence not included in the Hg19 reference sequence, resulting in the incorrect annotation of an additional exon. B A representation of some of the PSD proteins that bind to SHANK3 which acts as a PSD scaffold. SHANK3 binds to various membrane-bound receptors through Homer, SAPAP, and PSD-95 proteins. SHANK3 connects to the actin cytoskeleton through proteins such as α-Fodrin and Cortactin. Two or more SHANK3 proteins can multimerize through the SAM domains [based on Kreienkamp, 2008].