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LGMDR1
Chr 15ARcalpain 3
Also known as: CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94
This gene encodes calpain-3, a muscle-specific calcium-activated cysteine protease that binds to titin and functions as a major intracellular protease in skeletal muscle. Mutations cause limb-girdle muscular dystrophy, autosomal recessive 1 (LGMDR1), which primarily affects the proximal muscles of the shoulders and hips. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LGMDR1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LGMDR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools