ANK3基因突变与药物因子介绍
ankyrins是一个蛋白质家族，被认为能将完整的膜蛋白与潜在的spectrin-actin细胞骨架连接起来，并在细胞运动、活化、增殖、接触和维持特殊膜域等活动中发挥关键作用。锚蛋白的多个亚型对不同的靶蛋白具有不同的亲和力，以组织特异性、发育调控的方式表达大多数锚蛋白通常由三个结构域组成：含有多个锚蛋白重复序列的氨基末端域；具有高度保守的谱蛋白结合域的中心区域；以及最不保守且易变异的羧基末端调节域。Ankyrin 3是Ankyrin 1和Ankyrin 2的一个免疫特异性基因产物，最初发现于中枢和外周神经系统神经元的轴突起始段和Ranvier节点已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供，2011年2月]
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
