Dystrophin
Sign in to saveAlso known as uniprot:P11532, truncated dystrophin, DMD
thumb|In humans, the DMD gene is located on the short (p) arm of the between positions 21.2 and 21.1 Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa.
Protein · UniProt
Dystrophin
- Gene
- DMD
- Organism
- Homo sapiens (Human)
- Length
- 3,685 aa
- Molecular mass
- 426,778 Da
- Evidence
- 1: Evidence at protein level
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
Swiss-Prot (reviewed) · via UniProt
Research
10,546 papers- The DMD gene and therapeutic approaches to restore dystrophin.Neuromuscular disorders : NMD · 2021
- Dystrophin- and Utrophin-Based Therapeutic Approaches for Treatment of Duchenne Muscular Dystrophy: A Comparative Review.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024
- Duchenne Muscular Dystrophy: From Diagnosis to Therapy.Molecules (Basel, Switzerland) · 2015
- Gene Therapy for Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2021
- Exon-Skipping in Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2021
via PubMed
Clinical Trials
37 registered- PHASE3TERMINATEDAn Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular DystrophyCatabasis Pharmaceuticals · NCT03917719
- PHASE2COMPLETEDA Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With AtalurenPTC Therapeutics · NCT03796637
- NACOMPLETEDEffectiveness of a Multimodal Physiotherapy Program With Virtual Reality Glasses in Duchenne and Becker.University of Malaga · NCT03879304
- PHASE2COMPLETEDEfficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular DystrophySarepta Therapeutics, Inc. · NCT01540409
- PHASE1/PHASE2COMPLETEDA Randomized, Double-blind, Placebo-controlled Study of Delandistrogene Moxeparvovec (SRP-9001) for Duchenne Muscular Dystrophy (DMD)Sarepta Therapeutics, Inc. · NCT03769116
- PHASE2COMPLETEDSafety Study of Eteplirsen to Treat Advanced Stage Duchenne Muscular DystrophySarepta Therapeutics, Inc. · NCT02286947
~7 min read
Encyclopedic overview
9 sectionsContents
- Function
- Pathology
- Research
- Therapeutic microdystrophin
- Interactions
- Neanderthal admixture
- References
- Further reading
- External links
thumb|In humans, the DMD gene is located on the short (p) arm of the between positions 21.2 and 21.1 Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa.
Dystrophin is coded for by the DMD gene – the third largest known human gene, covering 2.24 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle measures about 2,100 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79-exon muscle transcript codes for a protein of 3685 amino acid residues.
Excerpted from Wikipedia’s “Dystrophin” article, available under the CC BY-SA 4.0 licence.