| Entrez gene ID | | 1605 |
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| Official gene symbol | | DAG1 |
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| Full name | | dystroglycan 1 (dystrophin-associated glycoprotein 1) |
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| Aliases | | ,156DAG,A3a,AGRNR,DAG, |
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| Gene summary | | Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. Alternative splicing results in multiple transcript variants all encoding the same protein. |
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| Location | | Chromosome: 3 Locus: 3p21 |
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| Gene position | | 49506146 - 49573048 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 66903 bp |
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| Gene sequence |
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| OMIM ID | | 128239 |
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