Department of Neurobiology and Anatomy, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Int J Mol Sci. 2024 Oct 3;25(19):10665. doi: 10.3390/ijms251910665.
Syntaxin 3 is a member of a large protein family of syntaxin proteins that mediate fusion between vesicles and their target membranes. Mutations in the ubiquitously expressed syntaxin 3A splice form give rise to a serious gastrointestinal disorder in humans called microvillus inclusion disorder, while mutations that additionally involve syntaxin 3B, a splice form that is expressed primarily in retinal photoreceptors and bipolar cells, additionally give rise to an early onset severe retinal dystrophy. In this review, we discuss recent studies elucidating the roles of syntaxin 3B and the regulation of syntaxin 3B functionality in membrane fusion and neurotransmitter release in the vertebrate retina.
突触融合蛋白 3 是一个大的突触融合蛋白家族的成员,介导囊泡与靶膜之间的融合。广泛表达的突触融合蛋白 3A 剪接形式中的突变会导致人类出现一种严重的胃肠道疾病,称为微绒毛包涵体病,而另外涉及到主要在视网膜光感受器和双极细胞中表达的突触融合蛋白 3B 剪接形式的突变则会导致早期严重的视网膜营养不良。在这篇综述中,我们讨论了最近的研究阐明了突触融合蛋白 3B 的作用以及脊椎动物视网膜中突触融合蛋白 3B 功能的调节在膜融合和神经递质释放中的作用。