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FLASH GENE
Symbol NRF1 contributors: mct/shn - updated : 28-08-2017
HGNC name nuclear respiratory factor 1
HGNC id 7996
ASSOCIATED DISORDERS
corresponding disease(s)
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
results in decreased HERPUD1 expression in cells and liver tissues
constitutional     --low  
NRF1 and COX6C are down-regulated in Chronic kidney disease (CKD) patients
Susceptibility to type 2 diabetes mellitus
Variant & Polymorphism other haplotypes associated with type 2 diabetes mellitus
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • expression levels of NRF1 is significantly decreased in both Alzheimer's disease hippocampal tissues and AD-causing amyloid precursor protein mutant cells