DISEASES

Disease-gene associations mined from literature

Literature associating DAG1 and Bethlem myopathy

DAG1 [ENSP00000442600]

Alpha-dystroglycan; The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization. Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non- muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.

Synonyms:  DAG1,  DAG1p,  hDAG1,  A0A1D5RMP6,  C9J196 ...

Linkouts:  STRING  Pharos  UniProt