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dystrophin, DMD or BMD gene

largest gene identified in humans. Length is more than 2.5 million base pairs, corresponding to ~ 0.1% of the genome and ~1.5% of the X chromosome. Transcription by RNA polymerase 2 is calculated to take about 14 hours.

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Dystrophin (DMD)

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: Dystrophin SIZE: entity length = 14 KB messenger RNA TEMPLATE-FOR: Dystrophin SIZE: entity length = 6.5 KB LOCUS: human X-chromosome P21.2 SIZE: entity length = 60 EXONS entity length = >1000 KB MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

Database Correlations

OMIM 310200

References

  1. Bar S et al A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 272:557 1990 PMID: 2176467
  2. OMIM :accession 310200
  3. Muntoni F et al Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurology 2:731-40, 2003 PMID: 14636778