Mouse SH3 and Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit | SHANK3 elisa kit
Mouse SH3 and Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]
Uniprot Description
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
Chromosomal Location of Human Ortholog: 22q13.33
Cellular Component: cell junction; cytosol; dendritic spine; neuron projection; plasma membrane; postsynaptic density; postsynaptic membrane
Molecular Function: actin binding; GKAP/Homer scaffold activity; ionotropic glutamate receptor binding; protein binding; protein C-terminus binding; protein self-association; SH3 domain binding; zinc ion binding
Biological Process: adult behavior; axon guidance; brain morphogenesis; learning; MAPK cascade; memory; negative regulation of actin filament bundle formation; negative regulation of cell volume; positive regulation of long-term neuronal synaptic plasticity; positive regulation of synapse structural plasticity; positive regulation of synaptic transmission, glutamatergic; social behavior; striatal medium spiny neuron differentiation; synaptogenesis; vocal learning
Disease: Phelan-mcdermid Syndrome; Schizophrenia 15
Research Articles on SHANK3
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Product Notes
The Mouse SHANK3 shank3 (Catalog #AAA9905953) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9905953 ELISA Kit recognizes Mouse SHANK3. It is sometimes possible for the material contained within the vial of "SH3 and Multiple Ankyrin Repeat Domains Protein 3 (SHANK3), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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