Products

Western Blot (Cell lysate)

Western blot analysis of NIH/3T3 cell lysate with SHANK3 polyclonal antibody (Cat # PAB25490) at 1 ug/mL in (1) the absence and (2) the presence of blocking peptide.

Immunohistochemistry

Immunohistochemical anyalysis of human brain tissue with SHANK3 polyclonal antibody (Cat # PAB25490) at 2.5 ug/mL.

Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

85358

Protein Accession#

NP_001073889

Gene Name

SHANK3

Gene Alias

DEL22q13.3, KIAA1650, PROSAP2, PSAP2, SPANK-2

Gene Description

SH3 and multiple ankyrin repeat domains 3

Omim ID

606230 606232

Gene Ontology

Hyperlink

Gene Summary

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 are a major causitive factor in the neurological symptoms of 22q13.3 deletion syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq

Other Designations

proline rich synapse associated protein 2|proline-rich synapse-associated protein 2|shank postsynaptic density protein