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LGMDR5
Chr 13ARsarcoglycan gamma
Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM
Gamma-sarcoglycan is a sarcolemmal transmembrane glycoprotein that forms part of the dystrophin-glycoprotein complex, providing structural linkage between the muscle cell cytoskeleton and extracellular matrix. Mutations cause limb-girdle muscular dystrophy, autosomal recessive 5 (LGMDR5), which typically presents in early childhood with progressive weakness of the hip and shoulder girdle muscles. This 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/LGMDR5?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
LGMDR5 · 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
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External Resources
Links to major genomics databases and tools