For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of SHANK3 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9905940 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the SH3 and Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing SHANK3. The ELISA analytical biochemical technique of the MBS9905940 kit is based on SHANK3 antibody-SHANK3 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect SHANK3 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, SHANK3. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

171,151 Da

SH3 and multiple ankyrin repeat domains 3

SH3 and multiple ankyrin repeat domains protein 3

SH3 and multiple ankyrin repeat domains protein 3

KIAA1650; PROSAP2; PSAP2; Shank3; ProSAP2??[Similar Products]

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]

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: ***** 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

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