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Symbol DMD contributors: mct/pgu - updated : 04-03-2015
HGNC name dystrophin
HGNC id 2928
corresponding disease(s) BMD , CMD3B , DMD , OED , DELXP21
related resource Becker
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
disruption to the amino terminus in end stage cardiomyopathy
constitutional     --low  
lack of dystrophin leads to a general dysregulation of vesicle trafficking
Susceptibility to viral (enterovirus) heart disease and increased risk of cardiomyopathy
Variant & Polymorphism
Candidate gene
Therapy target
suramin, a transforming growth factor-beta 1 (TGF-beta1) blocker, might be a useful therapeutic alternative for the treatment of dystrophinopathies (DMD and other myopathy)
  • increased levels of matrix metalloproteinase-9 (Mmp-9) protein causes myopathy in dystrophin-deficient mdx mice
  • suramin decreased creatine kinase in mdx mice and attenuated fibrosis in all muscles studied, except for cardiac muscle
  • severe muscle phenotype observed in mdx/mTRG2 animals is caused by defects in muscle stem cells function (MUSC), demonstrating that progressive loss of MUSC reserve plays a major role in determining the severity of the dystrophic phenotype
  • mice lacking utrophin and dystrophin (mdx/utrn -/-) are severely affected and die prematurely
  • altered acetylcholine release in the hippocampus of dystrophin-deficient mice