菜单 基因医生

该基因编码属于NeRuxin家族的单程I型膜蛋白。Nexxin是在中枢神经系统突触中结合神经素形成Ca（2 +）依赖的Neurxin／Nouligigin复合物的细胞表面受体。这种复合物是有效神经传递所必需的，参与突触接触的形成对该基因家族的三个成员进行了详细的研究，估计通过在每个家族成员中使用两个备选启动子（α和β）和广泛的备选剪接，可以产生3000多个变体最近，第三个启动子（gamma）被鉴定为该基因的3'区域。该基因突变与pitt-hopkins样综合征-2有关，可能与精神分裂症易感性有关。[由RefSeq提供，2016年8月]
This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. 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 involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]