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MDDGC2
Chr 14ARprotein O-mannosyltransferase 2
Also known as: LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
The protein is an O-mannosyltransferase that requires interaction with POMT1 for enzymatic function and localizes to the endoplasmic reticulum membrane. Mutations cause Walker-Warburg syndrome and muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, affecting both brain development and muscle function. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MDDGC2?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
MDDGC2 · 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