DMD

GENE INFORMATION

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Gene name

DMD (HGNC Symbol)

Synonyms

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

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 (Chromosome progress)

Cytoband

p21.1

Chromosome location (bp)

31137336 - 33357558

Ensembl

ENSG00000198947 (version 73.37)

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-012
 
DMD-013
 
DMD-014
 
DMD-015
 
DMD-016
 
DMD-017
 
DMD-019
 
DMD-020
 
DMD-021
 
DMD-024
 
DMD-201
 
DMD-202
 
DMD-203
 
DMD-204
 
 » 
 
 
 
 

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
P11532
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 » 101 12 No 0
DMD-005 ENSP00000388559
ENST00000448370
Q8WYF6
Show all »
Show » 41 5.3 No 0
DMD-006 ENSP00000367948
ENST00000378677
E9PDN5
Show all »
Show » 3681 426 No 0
DMD-009 ENSP00000395904
ENST00000447523
Q14174
Show all »
Show » Show » 125 14.5 No 0
DMD-012 ENSP00000417075
ENST00000471779
30 3.5 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 » 1243 143.2 No 0
DMD-017 ENSP00000350765
ENST00000358062
H0Y304
Show all »
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 » 238 27.4 No 0
DMD-021 ENSP00000420046
ENST00000465285
Q8WYC4
Show all »
Show » 1424 163.6 No 0
DMD-024 ENSP00000417725
ENST00000493412
H0Y864
Show all »
134 16.1 No 0
DMD-201 ENSP00000340057
ENST00000343523
E7EQR9
Show all »
Show » 1133 130.8 No 0
DMD-202 ENSP00000352894
ENST00000359836
F8VX32
Show all »
Show » 1230 141.8 No 0
DMD-203 ENSP00000367979
ENST00000378707
E7EQS5
Show all »
Show » 1225 141.4 No 0
DMD-204 ENSP00000444119
ENST00000541735
F5GZY3
Show all »
Show » 1115 129 No 0