This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
Forensic Context
A study in mice demonstrated that the NFE2L1 is part of a unique transcriptional program in immature cardiocytes entering the cell cycle after injury, where it serves a protective function [Li et al. DOI:10.3389/fcvm.2022.768834]. In human left ventricular tissue, the NFE2L1 mRNA was identified as a predicted target of the upregulated miRNA miR-339-5p following acute ischemia, with their expression showing a strong anticorrelation [Saddic et al. DOI:10.1152/physiolgenomics.00049.2015]. A study in mice demonstrated that α-particle irradiation of Kupffer and endothelial cells in the liver induced a characteristic inflammatory state and altered gene expression profiles, with specific down-regulation of the NFE2L1 specifically observed after Kupffer cell-specific α-particle exposure [Roudkenar et al. DOI:10.1269/jrr.07078]. In human pediatric burn patients, skeletal muscle biopsies revealed significant alterations in PPAR and mitochondrial gene expression, including the downregulation of PGC-1ß and upregulation of PGC-1α, PPARδ, and UCP2, suggesting a state of metabolic and mitochondrial dysfunction [Tzika et al. DOI:10.3892/ijmm_00000244].