NBEA - neurobeachin Gene

中文名称：神经海滩

种属: Homo sapiens

同用名: BCL8B; LYST2; NEDEGE

关于 NBEA

功能概要

该基因编码大量不同的 A 激酶锚蛋白中的一个成员，这些蛋白通过与其 II 型调节亚基结合，将蛋白激酶 A 的活性靶向特定的亚细胞位点。小鼠中一种高度相似的蛋白质的脑特异性表达和外壳蛋白样膜募集表明参与了神经元后高尔基体膜交通。该基因的突变可能与某种形式的自闭症有关。该基因及其表达在多发性骨髓瘤患者中经常被破坏。可变剪接导致编码不同异构体的多个转录变体。可能存在其他转录变体，但尚未确定其全长性质。[RefSeq 提供，2011 年 2 月]

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]