Gene: NRF1

Alternate names for this Gene: ALPHA-PAL

Gene Summary: This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for 'nuclear factor (erythroid-derived 2)-like 1' which has an official symbol of NFE2L1.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.2

Description of this Gene: nuclear respiratory factor 1

Type of Gene: protein-coding

rs6961102 in NRF1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7788849 in NRF1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.