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Gene: DMD (dystrophin) Homo sapiens
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Symbol: DMD
Name: dystrophin
RGD ID: 736976
Description: Exhibits cytoskeletal protein binding activity and dystroglycan binding activity. Involved in several processes, including cardiac muscle contraction; positive regulation of neuron projection development; and regulation of heart rate. Localizes to several cellular components, including costamere; filopodium membrane; and sarcolemma. Predicted to colocalize with actin cytoskeleton and lateral plasma membrane. Implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Biomarker of Duchenne muscular dystrophy and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; dystrophin (muscular dystrophy, Duchenne and Becker types); mental retardation, X-linked 85; MRX85; truncated dystrophin
Orthologs:
Mus musculus (house mouse) : Dmd (dystrophin, muscular dystrophy)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dmd (dystrophin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dmd (dystrophin)
Pan paniscus (bonobo/pygmy chimpanzee) : DMD (dystrophin)
Canis lupus familiaris (dog) : DMD (dystrophin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dmd (dystrophin)
Sus scrofa (pig) : DMD (dystrophin)
Chlorocebus sabaeus (African green monkey) : DMD (dystrophin)
Heterocephalus glaber (naked mole-rat) : Dmd (dystrophin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX31,097,677 - 33,339,441 (-)EnsemblGRCh38hg38GRCh38
GRCh38X31,119,219 - 33,339,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X31,137,345 - 33,357,726 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X31,047,266 - 33,267,647 (-)NCBINCBI36hg18NCBI36
Build 34X30,955,968 - 31,044,681NCBI
CeleraX35,264,860 - 37,484,992 (-)NCBI
Cytogenetic MapXp21.2-p21.1NCBI
HuRefX28,877,768 - 31,095,562 (-)NCBIHuRef
CHM1_1X31,168,731 - 33,388,091 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model