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.,
相关产品： RS0001,RS0002,YM3028,YM3029
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). .
组织表达： Expressed in the cerebral cortex and the cerebellum.
科研货号： PLA007152
SHAN3 Polyclonal Antibody
Catalog NoPLA007152
Product information
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)
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
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). .
组织表达： Expressed in the cerebral cortex and the cerebellum.
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