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.
In the Vinony graph
Within Vinony's link graph, Dystrophin is referenced by 435 other articles, and connects out to base pair, skeletal muscle and myocyte.
Vinony files it under Cell adhesion proteins, Cytoskeleton and Genes on human chromosome X.
Its subject is documented across 19 Wikipedia language editions.
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
Wikidata facts
Show 5 more facts
- Commons category
- Dystrophin
- cell component
- membrane raft
- found in taxon
- Homo sapiens
- time of discovery or invention
- 1987-00-00
- exact match
- purl.uniprot.org/uniprot/P11532
via Wikidata · CC0
~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.