Reissner Carsten, Runkel Fabian, Missler Markus
Genome Biol. 2013;14(9):213. doi: 10.1186/gb-2013-14-9-213.
The neurexin family of cell adhesion proteins consists of three members in vertebrates and has homologs in several invertebrate species. In mammals, each neurexin gene encodes an α-neurexin in which the extracellular portion is long, and a β-neurexin in which the extracellular portion is short. As a result of alternative splicing, both major isoforms can be transcribed in many variants, contributing to distinct structural domains and variability. Neurexins act predominantly at the presynaptic terminal in neurons and play essential roles in neurotransmission and differentiation of synapses. Some of these functions require the formation of trans-synaptic complexes with postsynaptic proteins such as neuroligins, LRRTM proteins or cerebellin. In addition, rare mutations and copy-number variations of human neurexin genes have been linked to autism and schizophrenia, indicating that impairments of synaptic function sustained by neurexins and their binding partners maybe relevant to the pathomechanism of these debilitating diseases.
脊椎动物中的细胞粘附蛋白神经连接蛋白家族由三个成员组成，并且在几种无脊椎动物物种中存在同源物。在哺乳动物中，每个神经连接蛋白基因编码一种细胞外部分较长的α-神经连接蛋白和一种细胞外部分较短的β-神经连接蛋白。由于可变剪接，这两种主要的异构体都可以转录成许多变体，从而形成不同的结构域和变异性。神经连接蛋白主要在神经元的突触前末端起作用，并在神经传递和突触分化中发挥重要作用。其中一些功能需要与突触后蛋白（如neuroligin、LRRTM蛋白或小脑素）形成跨突触复合物。此外，人类神经连接蛋白基因的罕见突变和拷贝数变异与自闭症和精神分裂症有关，这表明神经连接蛋白及其结合伴侣所维持的突触功能受损可能与这些使人衰弱的疾病的发病机制有关。
