DISEASES

Disease-gene associations mined from literature

Literature associating DMD and Bethlem myopathy

DMD [ENSP00000354923]

Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission; X-linked mental retardation

Synonyms:  DMD,  B4DSV7,  DYSTROPHIN,  E7EQS5,  E7ESB2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM