DAG1

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. [provided by RefSeq, Apr 2010]

Description

dystroglycan 1 (dystrophin-associated glycoprotein 1)

Protein family

Membrane proteins predicted by MDM, Peptidases, Secreted proteins predicted by MDSP

Chromosome

3:p21.31 (49506146 - 49573048)

Ensembl ID

ENSG00000173402  (ver. 69.37)

Orthologs

Mouse Dag1: ENSMUSG00000039952

Human splice variants
Mouse splice variants