NFE2L2
LOCUS ID4780
GENE_SYMBOLNFE2L2
GENE NAMEnuclear factor, erythroid 2-like 2
SYNONYMNSNRF2, HEBP1
CHROMOSOME2
HOMOLOGENE ID2412
SOURCEHUMAN
PMIDs24186494 , 23569120
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]

OBSERVATION
1. 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 retil pigment epithelium indicating NFE2L2 deficiency has induced retil 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.