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Gene : DMD Homo sapiens

Name  ? dystrophin Cytological Location  Xp21.2-p21.1
Brief Description  dystrophin
Description  This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
  • synonyms:
  • DXS164,
  • DXS206,
  • DXS164,
  • OTTHUMG00000021336,
  • DXS268,
  • DXS206,
  • DMD,
  • MRX85,
  • NM_004006,
  • DXS272,
  • muscular dystrophy, Duchenne and Becker types,
  • DXS270,
  • DXS239,
  • DXS269,
  • uc004dda.2,
  • DXS239,
  • DXS268,
  • DXS142,
  • HGNC:2928,
  • DXS269,
  • DXS230,
  • DXS272,
  • mental retardation, X-linked 85,
  • MRX85,
  • BMD,
  • dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272,
  • DXS270,
  • CMD3B,
  • BMD,
  • DXS142,
  • AF047505,
  • DXS230
  • identifiers:
  • 1756,
  • ENSG00000198947,
  • DMD

Genome feature

Region: gene ? Length: 2220242
Location: X:31119219-33339460 reverse strand Cyto location: Xp21.2-p21.1


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3 Diseases

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57 SN Ps

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97 Rna Seq Results