SHANK1/SHANK3 (SHANK3) Antibody – Mouse Monoclonal

SHANK3: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction. A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B. Defects in SHANK3 are associated with autism spectrum disorders (ASD). ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). Defects in SHANK3 are the cause of schizophrenia type 15 (SCZD15). SCZD15 is a complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Cellular Component: postsynaptic membrane; neuron projection; cell; cytoplasm; postsynaptic density; plasma membrane; dendritic spine; synapse; intracellular; cell junction

Molecular Function: protein C-terminus binding; identical protein binding; ionotropic glutamate receptor binding; protein binding; protein self-association; zinc ion binding; GKAP/Homer scaffold activity; actin binding; SH3 domain binding

Biological Process: negative regulation of actin filament bundle formation; MAPKKK cascade; learning; social behavior; vocal learning; positive regulation of synaptic transmission, glutamatergic; positive regulation of long-term neuronal synaptic plasticity; memory; protein oligomerization; positive regulation of synapse structural plasticity; synaptogenesis; striatal medium spiny neuron differentiation; adult behavior; embryonic epithelial tube formation; brain morphogenesis; neuromuscular process controlling balance; negative regulation of cell volume