CAPN3
Function
Calcium-regulated non-lysosomal thiol-protease. Proteolytically cleaves CTBP1 at 'His-409'. Mediates, with UTP25, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329).
Involvement in disease
Muscular dystrophy, limb-girdle, autosomal recessive 1
LGMDR1
An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.
None
The disease is caused by variants affecting the gene represented in this entry.
Muscular dystrophy, limb-girdle, autosomal dominant 4
LGMDD4
A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase C2 family.
Tissue Specificity
Isoform I is skeletal muscle specific.
Cellular localization
- Cytoplasm
- Nucleus
- Nucleolus
Alternative names
CANP3, CANPL3, NCL1, CAPN3, Calpain-3, Calcium-activated neutral proteinase 3, Calpain L3, Calpain p94, Muscle-specific calcium-activated neutral protease 3, New calpain 1, CANP 3, nCL-1