Functional polymorphisms in Nrf2: implications for human disease

摘要: Nuclear factor (erythroid derived)-2 like 2 (NFE2L2), also known as nuclear erythroid (NF-E2)-related (Nrf2), is a ubiquitous transcription essential for protecting cells and tissues from oxidative stress-induced injury. Positional cloning studies with Nrf2 knockout mice have identified important roles this in disease phenotypes many organ systems. Studies characterized the means through which human regulated mechanisms of interaction antioxidant response elements (ARE) promoters effector genes. Moreover, single nucleotide polymorphisms (SNPs) been evaluated effects on gene expression function, translational investigations sought to determine whether loss function SNPs associate progression. In review, we present 1) an overview protein domain, 2) identification genetic mutations associations multiple diseases, 3) role somatic primarily various cancers.