Symbol
| CAPN1
| contributors: mct/pgu - updated : 06-06-2016
|
HGNC name
| calpain 1, (mu/I) large subunit
|
HGNC id
| 1476
|
corresponding disease(s)
|
SPG76
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --low
|  
|
in higher grading of the ovarian carcinoma | constitutional
|  
|  
| --over
|  
|
associated with an increase in mitochondrial ROS generation and oxidative damage and a reduction in ATP synthase alpha(ATP5A1) protein and ATP synthase activity | |
Variant & Polymorphism
|
| |
Candidate gene
| is a novel molecular candidate to retard age-associated extracellular matrix remodeling and its attendant risk for hypertension and atherosclerosis |
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
allergy | | | |
potential therapeutic target for the management of allergic inflammation |
| | |
| Capn1 knock-out mice may serve as a useful model system for neuronal protection and apoptosis in traumatic brain injury and other neurodegenerative disorders in which oxidative stress plays a role | |
Calpain-1 protein and activity in mitochondria were elevated in diabetic mouse hearts |