Human DMD (Dystrophin) CLIA Kit

Dystrophin

Uniprot ID: RU1C_HUMAN ; Reactome: R-HSA-3000171 ; Gene ID: 1756

Tissue Specificity: Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells.

Function: 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.