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DMD
GENE/PROTEIN ANTIBODY/ANTIGEN

GENE INFORMATION

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Gene name

 DMD (HGNC Symbol)

Synonyms

 BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

Description

 Dystrophin (HGNC Symbol)

Entrez gene 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]

Chromosome

 X

Cytoband

Chromosome location (bp)

 31097677 - 33339441

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000198947 (version 78.38)

Entrez gene

 1756

UniProt

 P11532 (UniProt - Evidence at protein level)

neXtProt

 NX_P11532

Antibodypedia

 DMD antibodies
 

PROTEIN VIEW

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DMD-001
  
DMD-002
  
DMD-004
  
DMD-005
  
DMD-006
  
DMD-009
  
DMD-013
  
DMD-014
  
DMD-015
  
DMD-016
  
DMD-017
  
DMD-019
  
DMD-020
  
DMD-024
  
DMD-201
  
DMD-202
  
DMD-203
  
DMD-204
  
DMD-205
  
DMD-206
  
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DMD-001 ENSP00000354923
ENST00000357033 		A0A075B6G3
Show all » 		Show » Show » 3685 426.8 No 0
DMD-002 ENSP00000288447
ENST00000288447 		Q4G0X0
Show all » 		Show » Show » 772 88.8 No 0
DMD-004 ENSP00000399897
ENST00000420596 		Q14172
Show all » 		Show » Show » 101 12 No 0
DMD-005 ENSP00000388559
ENST00000448370 		Q8WYF6
Show all » 		Show » Show » 41 5.3 No 0
DMD-006 ENSP00000367948
ENST00000378677 		E9PDN5
Show all » 		Show » Show » 3681 426 No 0
DMD-009 ENSP00000395904
ENST00000447523 		Q14174
Show all » 		Show » Show » 125 14.5 No 0
DMD-013 ENSP00000367997
ENST00000378723 		P11532
Show all » 		Show » Show » 635 72.2 No 0
DMD-014 ENSP00000354464
ENST00000361471 		P11532
Show all » 		Show » Show » 622 70.7 No 0
DMD-015 ENSP00000367974
ENST00000378702 		P11532
Show all » 		Show » Show » 617 70.4 No 0
DMD-016 ENSP00000417123
ENST00000474231 		E7ESB2
Show all » 		Show » Show » 1243 143.2 No 0
DMD-017 ENSP00000350765
ENST00000358062 		H0Y304
Show all » 		Show » Show » 1386 159.4 No 0
DMD-019 ENSP00000367951
ENST00000378680 		P11532
Show all » 		Show » Show » 525 59.8 No 0
DMD-020 ENSP00000367977
ENST00000378705 		H0Y3E8
Show all » 		Show » Show » 238 27.4 No 0
DMD-024 ENSP00000417725
ENST00000493412 		H0Y864
Show all » 		Show » 134 16.1 No 0
DMD-201 ENSP00000340057
ENST00000343523 		Q14205
Show all » 		Show » Show » 956 110 No 0
DMD-202 ENSP00000352894
ENST00000359836 		F8VX32
Show all » 		Show » Show » 1230 141.8 No 0
DMD-203 ENSP00000367979
ENST00000378707 		E7EQS5
Show all » 		Show » Show » 1225 141.4 No 0
DMD-204 ENSP00000444119
ENST00000541735 		F5GZY3
Show all » 		Show » Show » 1115 129 No 0
DMD-205 ENSP00000479270
ENST00000619831 		E7EQS5
Show all » 		Show » Show » 3680 426.1 No 0
DMD-206 ENSP00000478150
ENST00000620040 		E7EQS5
Show all » 		Show » Show » 3684 426.8 No 0
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.