Target：SHAN3

Fields：Glutamatergic synapse

Gene Name：SHANK3 KIAA1650 PSAP2

Protein Name：SH3 and multiple ankyrin repeat domains protein 3 (Shank3) (Proline-rich synapse-associated protein 2) (ProSAP2)

Human Gene Id：85358

Human Swiss Prot No：Q9BYB0

Mouse Swiss Prot No：Q4ACU6

Rat Swiss Prot No：Q9JLU4

Immunogen：Synthesized peptide derived from part region of human protein

Specificity：SHAN3 Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：191kD

Background： 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

Function：disease:A chromosomal aberration disrupting SHANK3/PSAP2 is responsible for the clinical features of chromosome 22q13.3 deletion syndrome [MIM:606232]. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B. The phenotype is characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior and minor dysmorphic features.,disease:Defects in SHANK3 are a cause of 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).,function:Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of

Subcellular Location：Cytoplasm . Cell junction, synapse, postsynaptic density . Cell projection, dendritic spine . In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD). .

Expression：Expressed in the cerebral cortex and the cerebellum.