Symbol
| NRF1
| contributors: mct/shn - updated : 28-08-2017
|
HGNC name
| nuclear respiratory factor 1
|
HGNC id
| 7996
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| expression levels of NRF1 is significantly decreased in both Alzheimer's disease hippocampal tissues and AD-causing amyloid precursor protein mutant cells |