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MDDGC9
Chr 3ARdystroglycan 1
Also known as: 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
Dystroglycan is a central component of the dystrophin-glycoprotein complex that links the extracellular matrix to the cytoskeleton in skeletal muscle. Mutations cause muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, which follows autosomal recessive inheritance. This dystroglycanopathy primarily affects the skeletal muscle system as part of the broader spectrum of limb-girdle muscular dystrophies.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MDDGC9?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
MDDGC9 · 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