CAPN3
Musculoskeletal System · Skeletal Muscle Sarcomere Structure
How do muscle fibers remove damaged proteins from their contractile machinery?
CAPN3 makes calpain-3, an enzyme that cuts selected proteins within muscle sarcomeres. Removing damaged components helps maintain the structures used for contraction.
- Common Gene Name
- calpain 3
- NCBI Gene ID
- 825
- Chromosome
- 15
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (3 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2024-08-29 |
| muscular dystrophy, limb-girdle, autosomal dominant | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-05-13 |
| Limb-girdle muscular dystrophy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-11 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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