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MDDGA1
Chr 9ARprotein O-mannosyltransferase 1
Also known as: LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
The protein encoded by MDDGA1 is an O-mannosyltransferase that functions in the endoplasmic reticulum membrane and requires interaction with POMT2 for enzymatic activity. Mutations cause muscular dystrophy-dystroglycanopathy with congenital brain and eye anomalies (including Walker-Warburg syndrome), affecting muscle, brain, and ocular development. 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/MDDGA1?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
MDDGA1 · 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