DISEASES

Disease-gene associations mined from literature

Literature associating DMD and neuromuscular disease

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.

Synonyms:  DMD,  A0A075B6G3,  A0A087WTU7,  A0A087WV90,  A0A0B4J1W6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM