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- Table of Contents
Facts about 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.
Human | |
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Gene Name: | DMD |
Uniprot: | P11532 |
Entrez: | 1756 |
Belongs to: |
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No superfamily |
BMDDXS272; CMD3B; DXS142; DXS164; DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142; dystrophin
Mass (kDA):
426.75 kDA
Human | |
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Location: | Xp21.2-p21.1 |
Sequence: | X; NC_000023.11 (31119219..33339460, complement) |
Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver.
Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals.
PMID: 3282674 by Koenig M., et al. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
PMID: 2668885 by Rosenthal A., et al. Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.