NFE2L2
LOCUS ID4780
GENE_SYMBOLNFE2L2
GENE NAMEnuclear factor, eryt
SYNONYMNSNRF2, HEBP1
CHROMOSOME2
HOMOLOGENE ID2412
microRNAsNANA
GENE SUMMARY
This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. This article reviews the role of NFE2L2 in diabetic complications with a focus on diabetic nephropathy, cardiomyopathy, neuropathy and retinopathy. Activation of NFE2L2 protects against oxidative stress in vitro and in vivo, and represents an important target for prophylaxis and treatment of diabetic complications. NFE2L2 has potential clinical applications for diabetic patients in the near future.23569125
Retinopathy1. These indicate that NRF2 is an important protective factor regulating the progression of DR and suggest enhancement of the NRF2 pathway as a potential therapeutic strategy. 2. NFE2L2 knockout mice develop age dependent degeneration in the retinal pigment epithelium indicating NFE2L2 deficiency has induced retinal disease.A molecule with NFE2L2 stimulatory activity has been described as a prophylactic and therapeutic agent for diabetic retinopathy and drusen formation in age-related macular degeneration.24186494
Neuropathy1. The expression of Nfe2l2 and Hmox1 is downregulated in the sciatic nerve of diabetic animals compared with normal control animals.The NFE2L2 pathway has been implicated in diabetic neuropathy as a major regulator of antioxidant gene expression, including upregulation of the thioredoxin system23569125
Insulin resistance and Inflammation1. OB-IR subjects did not reflect significant differences in gene expression; however, correlations detected between sRAGE, biochemical parameters, and NRF2, besides the predominant RAGE distribution on the cell membrane in PBMC could be evidence of the early phase of the inflammatory cascade and the subsequent damage in specific tissues in subjects with OB-IR.31231489