Gene Symbol | DAG1 |
Entrez Gene ID | 1605 |
Full Name | dystroglycan 1 |
Synonyms | 156DAG,A3a,AGRNR,DAG,MDDGA9,MDDGC7,MDDGC9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) |