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 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the DLG4 (discs large homolog 4) gene. [5][6][7]

2023年6月22日 · DLG4 -related synaptopathy is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Rarely, individuals diagnosed with DLG4 -related synaptopathy inherited a DLG4 pathogenic variant from a heterozygous or mosaic parent. In general, the risk to other family members is presumed to be low.

PSD-95 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the DLG4 (disks large homolog 4) gene.

PSD95（Postsynaptic density protein-95）是突触后致密区来源的一种脚手架蛋白，或称为 Disks large homolog 4，由 DLG4 基因编码，属于膜相关鸟苷酸激酶（MAGUKs）家族蛋白，主要存在于成熟的兴奋的谷氨酸能突触内。

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.

PSD95 (突触后致密区蛋白 95) 也称为SAP90 (突触关联蛋白 90)或者由 DLG4 基因编码的Disks large homolog 4 (Statthakis et al., 1997)。 与其邻近亲属PSD93, SAP102和SAP97，一同属于MAGUK 蛋白超级家族，并且共享 PDZ, SH3 和 GUK结构域 的特性 (Woods and Bryant, 1993) 。

2023年6月23日 · Clinical characteristics: 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.

OriGene Anti-DLG4 Monoclonal (OTI12A5), TrueMAB™, Catalog # CF809015. Tested in Western Blot (WB) applications. This antibody reacts with Human, Mouse, Rat samples. Supplied as 100 µg purified antibody (1 mg/mL).

PSD95 antibody LS-C131534 is an unconjugated mouse monoclonal antibody to PSD95 (DLG4) from rat. It is reactive with human, mouse, rat and other species. Validated for ICC, IF and WB. Recombinant rat PSD-95. Recognizes rat PSD-95. Species cross-reactivity: Bovine, Human. Suitable for use in Immunofluorescence, Western Blot and Immunocytochemistry.