CAPN1
Description
The CAPN1 gene encodes calpain-1, a calcium-dependent cysteine protease involved in various cellular processes. Calpain-1 plays a crucial role in protein degradation, signal transduction, cell migration, and apoptosis. It is ubiquitously expressed and tightly regulated to ensure proper cellular function. Dysregulation of CAPN1 activity is associated with several disease conditions, including muscular dystrophies, neurodegenerative disorders, and cancer.
Associated Diseases
- Limb-girdle muscular dystrophy type 2A (LGMD2A)
- Myofibrillar myopathy
- Distal myopathy with rimmed vacuoles
- Charcot-Marie-Tooth disease type 1X
- Neurodegenerative disorders (e.g., Alzheimer‘s disease, Parkinson‘s disease)
- Cancer (e.g., breast cancer, prostate cancer)
Did you know?
Calpain-1 is also known as "muscle calpain" due to its high expression in skeletal muscle.
