DMD
GeneName
DMD
Summary
DMD, also known as dystrophin or hDMD, is a large cytoskeletal protein of 427 kDa that is primarily expressed in skeletal and cardiac muscle tissues. It is localised at the sarcolemma and plays a critical role in linking the cytoskeleton to the extracellular matrix through the dystrophin-associated glycoprotein complex. Dystrophin is involved in maintaining muscle cell integrity during contraction and is essential for proper muscle function. It also has roles in neuron development and maintenance of the blood-brain barrier, with interactions involving actin, myosin, and various binding partners that facilitate its structural and regulatory functions in muscle and neuronal tissues.
Importance
DMD is relevant to: - Duchenne muscular dystrophy (DMD), a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and weakness - Understanding muscle physiology and pathophysiology, particularly in relation to muscle contraction and integrity - Research into therapeutic strategies, including gene therapy and exon skipping approaches aimed at restoring dystrophin expression - Investigating the role of dystrophin in neuronal health and its implications in neurodegenerative diseases - Studying the molecular mechanisms of muscle development and regeneration.
Top Products
For researchers investigating DMD, we recommend two primary antibodies that stand out for their performance and reliability. The first is the well-cited polyclonal antibody, Anti-Dystrophin antibody (ab15277), which has garnered 494 citations, highlighting its trusted use in immunohistochemistry (IHC). This antibody is an excellent choice for those focusing on tissue analysis. Additionally, we offer the recombinant antibody, Anti-Dystrophin antibody [EPR9598(ABC)] (ab154168), which is validated for use in Western blotting (WB). With 31 citations, this recombinant product provides the batch-to-batch consistency that researchers often seek. Together, these antibodies provide robust options for studying DMD effectively. The Anti-Dystrophin antibody [EPR23336-129] ELISA Kit (ab275391), supported by 8 citations, is an excellent option for researchers looking to measure Dystrophin levels effectively.
Abcam Product Citation Summary
The data indicates a strong focus on the use of Abcam antibodies for detecting DMD in various contexts, particularly in human and mouse muscle tissues. The studies encompass a range of applications including Western blotting, immunofluorescence, and immunohistochemistry, highlighting the relevance of DMD in muscle biology and disease mechanisms. The research also explores therapeutic strategies and the effects of genetic modifications on DMD expression.
Abcam Product Citation Table
Developmental stage
Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. Isoform 16: Detected in all embryonic tissues examined.
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.
Involvement in disease
Duchenne muscular dystrophy
DMD
Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
None
The disease is caused by variants affecting the gene represented in this entry.
Becker muscular dystrophy
BMD
A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, dilated, 3B
CMD3B
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD3B is an X-linked disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
Cellular localization
- Cell membrane
- Sarcolemma
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cytoskeleton
- 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.
Alternative names
Dystrophin, DMD
Database links
swissprot:P11532 entrezGene:1756 omim:300377 ncbi:NP_004002.2
Other research areas
- Cardiovascular