2024年12月24日 · DLG4 (Discs Large MAGUK Scaffold Protein 4) is a Protein Coding gene. Diseases associated with DLG4 include Intellectual Developmental Disorder, Autosomal Dominant 62 and Dlg4-Related Synaptopathy. Among its related pathways are Unblocking of NMDA receptors, glutamate binding and activation and MAPK family signaling cascades.

PSD-95 is a member of the membrane-associated guanylate kinase (MAGUK) family. With PSD-93 it is recruited into the same NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. [5] .

2021年2月17日 · Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53...

2023年6月22日 · DLG4-related synaptopathy is characterized by developmental delay, intellectual disability (most commonly in the mild-to-moderate range), and autism spectrum disorder. About half of affected individuals have epilepsy. Regression in motor development and/or language has been reported in about 40% of affected individuals.

The DLG4 protein enhances the resensitization of the D1 DA receptor by accelerating D1 receptor recycling to the cell membrane. This study found that the PSD-95 protein level significationalty elevated in pateint with deression.

该基因编码膜相关鸟苷酸激酶 (MAGUK) 家族的成员。 它与另一种 MAGUK 蛋白 DLG2 异源多聚化，并被募集到 NMDA 受体和钾通道簇中。 这两种 MAGUK 蛋白可能在突触后位点相互作用，形成多聚支架，用于受体、离子通道和相关信号蛋白的聚集。 已发现该基因编码不同异构体的多个转录变体。 [RefSeq 提供，2008 年 7 月] This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family.

2024年3月1日 · It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins.

DLG4, also known as Disc large 4 or PSD95, is a gene involved in the clustering of NMDA-receptors, potassium channels, and interacting proteins at the postsynaptic site, essential for proper synapse formation and function in the brain.

DLG4 was identified in Stessman et al., 2017 as a gene reaching de novo significance for loss-of-function variants in NDD cases (FDR-corrected de novo P-value of 3.77E-03). This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family.

Enables ionotropic glutamate receptor binding activity and scaffold protein binding activity. Involved in several processes, including dendritic spine morphogenesis; locomotory exploration behavior; and neurotransmitter receptor localization to postsynaptic specialization membrane.