SHANK3 Products

The SHANK3 gene encodes a SH3 and multiple ankyrin repeat domain protein 3 that in isoform 1 is 1,741 amino acids long at 186 kDA and in isoform 2 is 1,732 amino acids long at 185 kDA. This protein functions as an adaptor in postsynaptic density of excitatory synapses. Through complexes that include GKAP/PSD-95 and Homer and the actin-based cytoskeleton, these excitatory synapses are connected with the postsynaptic membrane including NMDA-type and metabotropic glutamate receptor. Additionally, this protein may function in structural and organizational projects of the dendritic spine and the synaptic junction. SHANK3 gene participates in cytoplasmic microtubules, glutamatergic synapses, and signaling events regulated by ret tyrosine kinase. It is known to interact with genes PLCG1, FYN, SRC, ABL1, and PIK3R1. Defects in SHANK3 are associated with autism spectrum disorders and schizophrenia type 15. It is also associated with phelan-mcdermid syndrome, cerebritis, prostatitis, neuronitis, dementia, prostate cancer, hypogonadism, hepatitis a, jacobsen syndrome, and trisomy 22.