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FLASH GENE
Symbol CAPN1 contributors: mct/pgu - updated : 06-06-2016
HGNC name calpain 1, (mu/I) large subunit
HGNC id 1476
ASSOCIATED DISORDERS
corresponding disease(s) SPG76
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Susceptibility
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
    SystemTypeDisorderPubmed
    allergy  
    potential therapeutic target for the management of allergic inflammation
    ANIMAL & CELL MODELS
  • 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