2022年10月30日 · hSyn启动子是人SYN1基因的启动子，SYN1基因表达产生Synapsin1的蛋白，是特异性表达在神经元内的蛋白，因此一般选择hSyn启动子作为神经元的特异性启动子。

Synapsin I, is the collective name for Synapsin Ia and Synapsin Ib, two nearly identical phosphoproteins that in humans are encoded by the SYN1 gene. [5][6] In its phosphorylated form, Synapsin I may also be referred to as phosphosynaspin I. Synapsin I is the first of the proteins in the synapsin family of phosphoproteins in the synaptic ...

2022年9月12日 · Using the combined approaches of electron microscopy and genetics, we revealed that Syn1 palmitoylation is vital for its binding with F-actin but not SVs. Inhibition of Syn1 palmitoylation...

2019年12月12日 · Here we test the hypothesis that Synapsin 1 (Syn1) may acts as a modulator of the Aβ production. Using biochemical and Förster resonance energy transfer (FRET)-based imaging approaches we have found that Syn1 knock down decreases, whereas (over)expression of Syn1 in cells increases the Aβ levels.

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the ...

2024年12月25日 · SYN1 (Synapsin I) is a Protein Coding gene. Diseases associated with SYN1 include Intellectual Developmental Disorder, X-Linked 50 and Epilepsy, X-Linked 1, With Variable Learning Disabilities And Behavior Disorders. Among its related pathways are Neurotransmitter release cycle and Sensory processing of sound.

2021年7月9日 · SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent years. In the study, we reported two male patients with familial SYN1 variants related neurodevelopmental disorders from Asian population.

2013年10月7日 · Two different carboxy-terminal forms of SYN1, a and b, exist, originating from alternative splicing of a common transcript. Well-known from a number of vertebrate species, SYN1 is an important player in neurotransmitter release, axonogenesis and synaptogenesis illustrated by knockout mice presenting with an epileptic phenotype [4, 5].

2013年2月1日 · Background: Syn I plays a key role at presynaptic terminals. Results: Sp1 binds to the SYN1 promoter, activating its transcription. Conclusion: Sp1 is a novel regulator of SYN1 transcription, whose activity is inhibited by REST and CpG methylation.

这个基因的人类同源物涉及X连锁癫痫，伴有可变的学习障碍和行为障碍以及非综合征性X连锁智力残疾50。 与人类SYN1（突触蛋白I）正交。 [由基因组资源联盟，2022年4月提供] Dir./Indir. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gene and alternative splicing annotation with AIR.