Dystrophin
Sign in to savethumb|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.
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
Article
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.