产品名称
SHAN3 Rabbit Polyclonal Antibody
基因名称
SHANK3 KIAA1650 PSAP2
蛋白名称
SH3 and multiple ankyrin repeat domains protein 3 (Shank3) (Proline-rich synapse-associated protein 2) (ProSAP2)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q9BYB0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9BYB0/entry
Mouse Swissprot No.
Q4ACU6
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q4ACU6
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941Q9JLU4
免疫原
Synthesized peptide derived from part region of human protein
特异性
SHAN3 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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
组织表达
Expressed in the cerebral cortex and the cerebellum.
细胞定位
Cytoplasm . Cell junction, synapse, postsynaptic density . Cell projection, dendritic spine . In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD). .
功能
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 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.,similarity:Contains 1 PDZ (DHR) domain.,similarity:Contains 1 SAM (sterile alpha motif) domain.,similarity:Contains 1 SH3 domain.,similarity:Contains 6 ANK repeats.,subcellular location:Postsynaptic density of neuronal cells.,subunit:May homomultimerize via its SAM domain (By similarity). Interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini via its PDZ domain (By similarity). Interacts with HOMER1, HOMER2, HOMER3 and CCTN/cortactin SH3 domain (By similarity). Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with DBNL (By similarity). Interacts with BAIAP2.,tissue specificity:Expressed in the cerebral cortex and the cerebellum.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.