DLG3 Antibody

1. This family broadens the mutational and phenotypical spectrum of DLG3-associated non-syndromic X-linked intellectual disability and demonstrates that heterozygous female mutation carriers can be as severely affected as males. PMID: 28777483
2. Following the critical period NMDA receptor function was unaffected by loss of SAP102 but there was a reduction in the divergence of TC connectivity. These data suggest that changes in synaptic function early in development caused by mutations in SAP102 result in changes in network connectivity later in life. PMID: 27466188
3. The dupG DLG3 variant segregated with non-syndromic X-linked intellectual disability in a large family and was predicted to disrupt folding of the mRNA. PMID: 27222290
4. Insertion of a guanine into the DLG3 5' UTR, 7 bp upstream of the start codon, down regulated DLG3 protein levels. This non-coding variant segregates with X-linked intellectual disability in a large family. PMID: 27222290
5. miR-1246 might play a role in neurological pathogenesis of human enterovirus 71 by regulating DLG3 gene in infected cells. PMID: 24739954
6. These data shed new light on the role of SAP102 in the regulation of NMDAR trafficking. PMID: 25555912
7. This study identified DLG3 significantly associated loci with a biologically plausible role in schizophrenia. PMID: 24507884
8. The data of this study suggested that DLG3 is down-regulated in this cancer type. PMID: 24381070
9. The PDZ-independent interaction between SAP102 and GluN2B mediates the synaptic clearance of GluN2B-containing NMDARs.(SAP102 protein) PMID: 23103165
10. Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. PMID: 22745750
11. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. PMID: 21384559
12. DLG3 was identified by genome-wide gene expression analyses as correlated with cellular sensitivity to cisplatin and carboplatin. DLG3 was also found to correlate with cellular sensitivity to platinating agents in NCI-60 cancer cell lines. PMID: 21252287
13. DLG3 did not associate with non-syndromic mental retardation in Chinese Han population; however, further studies are needed. PMID: 21369957
14. Results identified a novel splice site mutation in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation. PMID: 19795139
15. Loss may lead to altered synaptic plasticity and may explain the intellectual impairment observed in individuals with DLG3 mutations PMID: 15185169
16. E6AP is extensively involved in the ubiquitin-mediated degradation of Dlg (an HPV E6-dependent substrate) as a cellular E3 ubiquitin-protein ligase. PMID: 16482544
17. The results of this study suggested a putative role for DLG3/SAP102 in cortical hyperexcitability and epileptogenicity of malformations of cortical development. PMID: 19167192

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HGNC: 2902

OMIM: 300189

KEGG: hsa:1741

STRING: 9606.ENSP00000363480

UniGene: Hs.721586