| Symbol
| GPX1
| contributors: mct - updated : 09-10-2017
|
| HGNC name
| glutathione peroxidase 1
|
| HGNC id
| 4553
|
| corresponding disease(s)
|
GPX1
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| LOH
|
|
| |
in a significant percentage of colorectal cancer | | constitutional
|
|
|
| loss of function
|
augments proinflammatory cytokine-induced redox signaling and endothelial cell activation  | | constitutional
|
|
| --low
|
| |
significant reductions in expression of GPX1, GPX3, GPX4 in placentae from women with preeclampsia | |
| Susceptibility
|
to breast cancer to several types of malignancies to type 2 diabetes to Keshan disease (endemic dilated cardiomyopathy) to thoracic aortic aneurysm in hypertensive patients |
| Variant & Polymorphism
other
| allele with five ALA repeats is significantly associated with breast cancer risk |
|
the C-->T (Pro198Leu) polymorphism is protective against thoracic aortic aneurysm in hypertensive patients |
|
a single nucleotide polymorphism (Pro198Leu) associated with selenium deficiency as well as impaired GPX1 activity, which may, in turn, increase the incidence of KD (Keshan disease) |
|
variant associated with cancer risk for several types of malignancies |
|
GPX1 variants might contribute to the development of diabetes type 2 |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| miscelleaneous | vascular | | |
| may represent a potential therapeutic target for enhancement of regenerative capacity of endothelial progenitor cells (EPCs) in old subjects | | miscelleaneous | vascular | | |
| overexpressing GPX1 in endothelial cells is able to change the basal mRNA and protein BAX levels without affecting those of TP53 and BCL2 (useful to antiatherogenic therapies which use antioxidants with the aim of protecting the vascular wall against ox |
| | | |
|
| Gpx1(-/-) mice displayed significant reductions in rolling and adhesion associated with severe blood flow restriction |