Neurexin-1-alpha is a protein that in humans is encoded by the NRXN1 gene. [5] Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3 ...

2024年12月25日 · NRXN1 (Neurexin 1) is a Protein Coding gene. Diseases associated with NRXN1 include Chromosome 2P16.3 Deletion Syndrome and Pitt-Hopkins-Like Syndrome 2. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses.

NRXN1 is mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determines the level of a common synaptic protein in Drosophila. The findings of studies to date provide strong evidence that deletions of NRXN1 confer a substantial increase in risk of schizophrenia.

Mutations in the NRXN1 gene (OMIM#600565) have been frequently detected in various neurodevelopmental disorders, particularly in individuals affected by severe developmental delay/intellectual disability (DD/ID), epileptic seizures, and autistic spectrum disorder (ASD) .

简单地来说，Neurexin 家族包含有三个基因，分别为Nrxn1、Nrxn2和 Nrxn3。 不仅如此，外显子区域的基因序列包含了6个选择性剪接位点（alternative splicing site, SS） 【7】 ，这意味着通过这6个片段的不断组合变化可以制造出成千上万种不同的蛋白，也因此可能产生不同 ...

2025年1月5日 · Title: Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.

Neurexins, including NRXN1, are cell-surface receptors that bind neuroligins (see NLGN1; 600568) to form a Ca (2+)-dependent neurexin/neuroligin complex at synapses in the central nervous system. This transsynaptic complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts (Reissner et al., 2008).

2023年6月24日 · De novo mutations and copy number deletions in NRXN1 (2p16.3) pose a significant risk for schizophrenia (SCZ). It is unclear how NRXN1 deletions impact cortical development in a cell...

Neurexins 是细胞表面受体，它结合 neuroligins 以在中枢神经系统的突触处形成 CA (2+) 依赖性 neurexin/neuroligin 复合物。 该复合体是有效神经传递所必需的，并参与突触接触的形成。 该基因家族的三个成员已被详细研究，估计通过使用两个替代启动子 (alpha 和 beta) 和每个家族成员的广泛可变剪接产生超过 3,000 个变体。 最近，在 3' 区域为该基因鉴定了第三个启动子 (γ) 。 该基因的突变与 Pitt-Hopkins 样综合征 2 相关，并可能导致精神分裂症的易感性。 [RefSeq 提 …

2023年12月3日 · Neurexins are cell-surface receptors that bind neuroligins to form Ca (2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is …