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.

2022年9月12日 · Inhibition of Syn1 palmitoylation causes defects in SVs clustering and a reduced number of total SVs in vivo. We propose a model in which SVs redistribution is triggered by upregulated Syn1...

Enables identical protein binding activity and protein kinase binding activity. Involved in regulation of synaptic vesicle cycle and synaptic vesicle clustering. Acts upstream of or within neurotransmitter secretion.

SYN1 is a neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to regulate neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.

Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases.

The SYN1 gene encodes synapsin I, a neuronal phosphoprotein associated with the membranes of small synaptic vesicles. Synapsins may play a role in synaptic neurotransmission, neuronal development, synaptogenesis, maintenance of mature synapses, and plasticity (summary by Fassio et al., 2011 ).

2025年2月8日 · Title: A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. These findings contribute to previous work showing dysregulation of Synapsins, particularly SYN2, in mood disorders and improve our understanding of the regulatory mechanisms that precipitate ...

Synapsin 1 is a peripheral membrane protein on synaptic vesicles that mediates vesicle binding to the cytoskeleton. Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly …

2024年8月27日 · Clinical resource with information about SYN1, Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, Intellectual disability, X-linked 50, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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.