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Gene

DMD

dystrophin

Summary

Cytogenetic location
Xp21.2-p21.1
Coordinates
Chromosome X: 31,119,222–33,211,549 (GRCh38)
Exons
79 exons across 2,092.3 kb
Protein
3,685 amino acids
Also known as
BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Previous symbols
MRX85
MANE Select transcript
ENST00000357033.9NM_004006.3
Locus type
Protein-coding

Curated reports relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 2 GenCC submitters rate it definitive or strong
      Actionability

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)

    • Duchenne Muscular DystrophyX-linked recessive

      Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Corticosteroids (deflazacort, prednisone); exon-skipping antisense oligonucleotides (eteplirsen, golodirsen, viltolarsen, casimersen); ataluren for nonsense variants; micro-dystrophin gene therapy (delandistrogene moxeparvovec); cardiac and respiratory management

    • Becker muscular dystrophyX-linked recessive

      A milder, later-onset dystrophinopathy caused by DMD variants that leave some functional dystrophin, with progressive limb weakness and a high risk of heart muscle disease.

      • 1 GenCC submitter rates it definitive or strong

How DMD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where DMD sits. DMD and 13 genes near it on chromosome X, from 29,026,894 to 35,303,877.Chromosome XXp21.2-p21.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2830 Mb31 Mb32 Mb33 Mb34 Mb35 MbIL1RAPL1: 28,587,123–29,958,600, forward strandIL1RAPL1MAGEB2: 30,215,552–30,220,089, forward strandMAGEB3: 30,230,657–30,237,495, forward strandMAGEB3MAGEB4: 30,242,000–30,244,187, forward strandMAGEB4MAGEB1: 30,243,715–30,252,041, forward strandMAGEB1NR0B1: 30,304,206–30,309,394, reverse strandNR0B1TASL: 30,557,703–30,577,921, reverse strandTASLGK: 30,653,336–30,733,182, forward strandGKTAB3: 30,827,442–30,975,084, reverse strandTAB3FTHL17: 31,071,233–31,072,041, reverse strandFTHL17DMD: 31,119,222–33,211,549, reverse strandDMDFAM47A: 34,129,752–34,132,314, reverse strandFAM47ATMEM47: 34,627,075–34,657,333, reverse strandTMEM47FAM47B: 34,942,796–34,944,915, forward strandFAM47BDiagram of DMD: 79 exons on the reverse strand of chromosome XExon 76: 4 known disease-causing sitesExon 75: 10 known disease-causing sitesExon 74: 18 known disease-causing sitesExon 73: 5 known disease-causing sitesExon 72: 3 known disease-causing sitesExon 71: 13 known disease-causing sitesExon 70: 16 known disease-causing sitesExon 69: 11 known disease-causing sitesExon 68: 24 known disease-causing sitesExon 67: 10 known disease-causing sitesExon 66: 10 known disease-causing sitesExon 65: 18 known disease-causing sitesExon 64: 7 known disease-causing sitesExon 63: 7 known disease-causing sitesExon 62: 10 known disease-causing sitesExon 61: 6 known disease-causing sitesExon 60: 10 known disease-causing sitesExon 59: 25 known disease-causing sitesExon 58: 16 known disease-causing sitesExon 57: 16 known disease-causing sitesExon 56: 17 known disease-causing sitesExon 55: 18 known disease-causing sitesExon 54: 6 known disease-causing sitesExon 53: 26 known disease-causing sitesExon 52: 13 known disease-causing sitesExon 51: 21 known disease-causing sitesExon 50: 10 known disease-causing sitesExon 49: 8 known disease-causing sitesExon 48: 27 known disease-causing sitesExon 47: 13 known disease-causing sitesExon 46: 12 known disease-causing sitesExon 45: 12 known disease-causing sitesExon 44: 19 known disease-causing sitesExon 43: 21 known disease-causing sitesExon 42: 18 known disease-causing sitesExon 41: 16 known disease-causing sitesExon 40: 23 known disease-causing sitesExon 39: 21 known disease-causing sitesExon 38: 22 known disease-causing sitesExon 37: 8 known disease-causing sitesExon 36: 18 known disease-causing sitesExon 35: 23 known disease-causing sitesExon 34: 17 known disease-causing sitesExon 33: 22 known disease-causing sitesExon 32: 32 known disease-causing sitesExon 31: 13 known disease-causing sitesExon 30: 11 known disease-causing sitesExon 29: 13 known disease-causing sitesExon 28: 9 known disease-causing sitesExon 27: 18 known disease-causing sitesExon 26: 24 known disease-causing sitesExon 25: 23 known disease-causing sitesExon 24: 16 known disease-causing sitesExon 23: 28 known disease-causing sitesExon 22: 19 known disease-causing sitesExon 21: 19 known disease-causing sitesExon 20: 34 known disease-causing sitesExon 19: 15 known disease-causing sitesExon 18: 13 known disease-causing sitesExon 17: 19 known disease-causing sitesExon 16: 21 known disease-causing sitesExon 15: 14 known disease-causing sitesExon 14: 15 known disease-causing sitesExon 13: 12 known disease-causing sitesExon 12: 21 known disease-causing sitesExon 11: 29 known disease-causing sitesExon 10: 22 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 8: 23 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 6: 28 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 79: 31,119,222–31,121,930, 2,709 basesExon 78: 31,126,642–31,126,673, 32 basesExon 77: 31,134,102–31,134,194, 93 basesExon 76: 31,146,291–31,146,414, 124 basesExon 75: 31,147,275–31,147,518, 244 basesExon 74: 31,169,443–31,169,601, 159 basesExon 73: 31,172,348–31,172,413, 66 basesExon 72: 31,173,539–31,173,604, 66 basesExon 71: 31,177,932–31,177,970, 39 basesExon 70: 31,178,669–31,178,805, 137 basesExon 69: 31,180,370–31,180,481, 112 basesExon 68: 31,182,738–31,182,904, 167 basesExon 67: 31,203,961–31,204,118, 158 basesExon 66: 31,206,582–31,206,667, 86 basesExon 65: 31,209,498–31,209,699, 202 basesExon 64: 31,223,047–31,223,121, 75 basesExon 63: 31,260,955–31,261,016, 62 basesExon 62: 31,323,598–31,323,658, 61 basesExon 61: 31,348,556–31,348,634, 79 basesExon 60: 31,444,481–31,444,627, 147 basesExon 59: 31,478,106–31,478,374, 269 basesExon 58: 31,478,983–31,479,103, 121 basesExon 57: 31,496,788–31,496,944, 157 basesExon 56: 31,507,281–31,507,453, 173 basesExon 55: 31,627,673–31,627,862, 190 basesExon 54: 31,657,990–31,658,144, 155 basesExon 53: 31,679,375–31,679,586, 212 basesExon 52: 31,729,631–31,729,748, 118 basesExon 51: 31,773,960–31,774,192, 233 basesExon 50: 31,819,975–31,820,083, 109 basesExon 49: 31,836,718–31,836,819, 102 basesExon 48: 31,875,188–31,875,373, 186 basesExon 47: 31,929,596–31,929,745, 150 basesExon 46: 31,932,080–31,932,227, 148 basesExon 45: 31,968,339–31,968,514, 176 basesExon 44: 32,216,916–32,217,063, 148 basesExon 43: 32,287,529–32,287,701, 173 basesExon 42: 32,310,082–32,310,276, 195 basesExon 41: 32,342,100–32,342,282, 183 basesExon 40: 32,343,134–32,343,286, 153 basesExon 39: 32,345,943–32,346,080, 138 basesExon 38: 32,348,406–32,348,528, 123 basesExon 37: 32,362,788–32,362,958, 171 basesExon 36: 32,364,582–32,364,710, 129 basesExon 35: 32,365,020–32,365,199, 180 basesExon 34: 32,380,510–32,380,680, 171 basesExon 33: 32,386,310–32,386,465, 156 basesExon 32: 32,389,501–32,389,674, 174 basesExon 31: 32,390,071–32,390,181, 111 basesExon 30: 32,411,752–32,411,913, 162 basesExon 29: 32,438,241–32,438,390, 150 basesExon 28: 32,441,180–32,441,314, 135 basesExon 27: 32,448,456–32,448,638, 183 basesExon 26: 32,454,662–32,454,832, 171 basesExon 25: 32,463,439–32,463,594, 156 basesExon 24: 32,464,586–32,464,699, 114 basesExon 23: 32,468,498–32,468,710, 213 basesExon 22: 32,472,164–32,472,309, 146 basesExon 21: 32,484,919–32,485,099, 181 basesExon 20: 32,491,277–32,491,518, 242 basesExon 19: 32,501,755–32,501,842, 88 basesExon 18: 32,518,008–32,518,131, 124 basesExon 17: 32,545,159–32,545,334, 176 basesExon 16: 32,565,702–32,565,881, 180 basesExon 15: 32,573,530–32,573,637, 108 basesExon 14: 32,573,745–32,573,846, 102 basesExon 13: 32,595,757–32,595,876, 120 basesExon 12: 32,614,303–32,614,453, 151 basesExon 11: 32,644,132–32,644,313, 182 basesExon 10: 32,644,964–32,645,152, 189 basesExon 9: 32,697,870–32,697,998, 129 basesExon 8: 32,699,112–32,699,293, 182 basesExon 7: 32,809,493–32,809,611, 119 basesExon 6: 32,816,468–32,816,640, 173 basesExon 5: 32,823,295–32,823,387, 93 basesExon 4: 32,844,783–32,844,860, 78 basesExon 3: 32,849,728–32,849,820, 93 basesExon 2: 33,020,139–33,020,200, 62 basesExon 1: 33,211,282–33,211,549, 268 bases797060504030201015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 14 kb of the gene's 2,092.3 kb; 11,058 of those bases code for the protein.

Sequencing DMD

1Low

How hard DMD is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats4%
  • GC content1.5%
  • Reference coverage0%

1,495

positions in DMD where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2,092.3 kb of DMD, introns included, not only the 14 kb of exons.

Genes linked to the same conditions

Traits linked to DMD

The Human Phenotype Ontology lists these as features of the rare conditions DMD can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). DMD gene: dystrophin. Retrieved 17 October 2026, from https://dantelabs.com/genes/dmd

Vancouver

Dante Labs. DMD gene: dystrophin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dmd

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