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Reviewed February 2012
What is the official name of the DMD gene?
The official name of this gene is “dystrophin.”
DMD is the gene's official symbol. The DMD gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the DMD gene?
DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain.
In skeletal and cardiac muscles, dystrophin is part of a group of proteins (a protein complex) that work together to strengthen muscle fibers and protect them from injury as muscles contract and relax. The dystrophin complex acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix). The dystrophin complex may also play a role in cell signaling by interacting with proteins that send and receive chemical signals.
Little is known about the function of dystrophin in nerve cells. Research suggests that the protein is important for the normal structure and function of synapses, which are specialized connections between nerve cells where cell-to-cell communication occurs.
How are changes in the DMD gene related to health conditions?
Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the DMD gene.
Where is the DMD gene located?
Cytogenetic Location: Xp21.2
Molecular Location on the X chromosome: base pairs 31,119,218 to 33,339,608
The DMD gene is located on the short (p) arm of the X chromosome at position 21.2.
More precisely, the DMD gene is located from base pair 31,119,218 to base pair 33,339,608 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DMD?
You and your healthcare professional may find the following resources about DMD helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the DMD gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding DMD?
atrophy ; cardiac ; cardiomyopathy ; cell ; cytoskeleton ; dilated ; DNA ; extracellular ; extracellular matrix ; familial ; gene ; injury ; muscle cell ; muscle cells ; muscular dystrophy ; protein ; sign ; skeletal muscle ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.