About: DMD wt Allele     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • DMD wt Allele
rdfs:subClassOf
OMIM_Number
  • 300377
GenBank_Accession_Number
  • AF047505
Semantic_Type
  • Gene or Genome
Preferred_Name
  • DMD wt Allele
UMLS_CUI
  • C2699549
EntrezGene_ID
  • 1756
Legacy_Concept_Name
  • DMD_wt_Allele
HGNC_ID
  • HGNC:2928
FULL_SYN
  • DMD wt AllelePTNCI
  • BMDSYNCI
  • CMD3BSYNCI
  • DXS230SYNCI
  • DXS142SYNCI
  • DXS206SYNCI
  • DXS270SYNCI
  • DXS164SYNCI
  • DXS272SYNCI
  • DXS239SYNCI
  • DXS268SYNCI
  • Dystrophin (Muscular Dystrophy, Duchenne And Becker Types) wt AlleleSYNCI
DEFINITION
  • Human DMD wild-type allele is located in the vicinity of Xp21.2 and is approximately 2225 kb in length. This allele, which encodes dystrophin protein, plays a role in muscle cell development. Mutation of the gene is associated with cardiomyopathy dilated X-linked type 3B and with both the Duchenne and Becker types of muscular dystrophy.NCIUniProt
DesignNote
  • The DMD gene is the largest known human gene.
code
  • C75321
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