IDE

This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]

本基因编码一种锌金属肽酶，该酶能够降解细胞内胰岛素，从而终止胰岛素的活性，并参与通过降解多种肽类物质（如胰高血糖素、胰岛淀粉样蛋白、缓激肽和血管紧张素）的细胞间肽信号传递。该酶对胰岛素的优先亲和力导致胰岛素介导的对其他肽类物质（如β-淀粉样蛋白）降解的抑制。该蛋白功能缺陷与阿尔茨海默病和2型糖尿病密切相关，但该基因突变尚未被证实为这些疾病的病因。该蛋白主要定位于细胞质，但在某些细胞类型中可定位于细胞外空间、细胞膜、过氧化物酶体和线粒体。可变剪接导致多个转录本变体，编码不同的同源异构体。此外，尚有其他转录本变体被描述，但尚未经过实验验证。[由RefSeq提供，2009年9月]