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FLASH GENE

Symbol

DMD

contributors: mct/pgu - updated : 04-03-2015

HGNC name	dystrophin
HGNC id	2928

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BMD , CMD3B , DMD , OED , DELXP21

related resource

Becker

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy degenerative 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)

ANIMAL & CELL MODELS

	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