NCBI Summary:
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]
General function
Enzyme
Comment
Cellular localization
Comment
candidate123
Ovarian function
Oogenesis, Oocyte maturation
Comment
Gene whose expression is detected by cDNA array hybridization: stress response, cell/cell communication. Also, relative transcript level reproducibly increases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
PCO (polycystic ovarian syndrome)
Mutations
1 mutations
Species: human
Mutation name: type: naturally occurring fertility: subfertile Comment: Association of genetic variants of insulin degrading enzyme with metabolic features in women with polycystic ovary syndrome. Wang K et al. (2008) To evaluate the influence of the four single nucleotide polymorphisms of the insulin-degrading enzyme (IDE) gene on metabolic features in women with polycystic ovary syndrome (PCOS) in a Chinese population. Prospective, case-control study. University-based hospital. Three hundred fifteen patients with PCOS and 327 healthy controls. Peripheral venous puncture, ultrasonography, oral glucose tolerance test (OGTT). Genotype analysis of four single nucleotide polymorphisms in the IDE gene, hormonal and metabolic phenotypes. No significant differences in genotypes of these polymorphisms were found between PCOS patients and healthy controls. But the frequency of the C allele of rs2209972 was significantly higher in the PCOS group than that in the control group. The single nucleotide polymorphisms rs4646953, rs1887922, and rs1544210 had no impact on clinical and biochemical characteristics of women with PCOS. There were significant differences in body mass index (BMI) and insulin level in the rs2209972 genotype of women with PCOS. The women with PCOS with the CC genotype of rs2209972 had statistically significantly higher fasting insulin level and homeostasis model assessment for insulin resistance than the women with PCOS with the TT genotype. The single nucleotide polymorphism rs2209972 in the human IDE gene is associated with metabolic features of PCOS women in a Chinese population.//////////////////