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DMD

dystrophin

Synonyms:
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Species:
Human DMD (1756), Mouse Dmd (13405), Rat Dmd (24907), Zebrafish dmd (83773), cow DMD (540755), chicken DMD (396236), dog DMD (606758), Horse DMD (100051515), domestic cat DMD (100750243), naked mole-rat Dmd (101715920) ...More
UniProtKB ID:
P11532, E9PDN1, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48
Gene ID:
  • Human(1756) Summary: The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
  • Mouse(13405) dystrophin, muscular dystrophy
  • Rat(24907) dystrophin
  • Zebrafish(83773) dystrophin
  • cow(540755) dystrophin
  • chicken(396236) dystrophin
  • dog(606758) dystrophin
  • Horse(100051515) dystrophin
  • domestic cat(100750243) Duchenne muscular dystrophy
  • naked mole-rat(101715920) dystrophin
  • domestic guinea pig(100727002) dystrophin
  • sheep(101119444) dystrophin

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Antibodies

Product Number
Description
Species Reactivity
Application
ABN2287
Anti-Dystrophin, ,
Species Reactivity
human, mouse
Application
ELISA
immunohistochemistry
western blot
MABT1569
Anti-Dystrophin MANEX4850E Antibody, clone 8C5, ,
Species Reactivity
human, mouse
Application
immunofluorescence
immunohistochemistry
western blot
SAB5702986
Anti-Dystrophin Antibody, clone 10G10K7, Rabbit Monoclonal, ,
Species Reactivity
mouse, rat
Application
immunofluorescence
immunohistochemistry
MABT827
Anti-Dystrophin Antibody, clone 2C6 (MANDYS106), clone 2C6 (MANDYS106), from mouse,
Species Reactivity
human
Application
immunofluorescence
immunohistochemistry
western blot
ZRB1309
Anti-Dystrophin Antibody, clone 1G7, ZooMAb® Rabbit Monoclonal, recombinant, expressed in HEK 293 cells,
Species Reactivity
human, mouse
Application
ELISA
affinity binding assay
immunocytochemistry
immunohistochemistry
western blot