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Sequence in raw or FASTA format:

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DMD dystrophin [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000109 Homo sapiens dystrophin (DMD), transcript variant Dp427c, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_004006 Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_004007 Homo sapiens dystrophin (DMD), transcript variant Dp427l, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_004009 Homo sapiens dystrophin (DMD), transcript variant Dp427p1, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_004010 Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_004011 Homo sapiens dystrophin (DMD), transcript variant Dp260-1, mRNA. ORF Sequence $3165.75
Peptide Services
Antibody Services
Protein Services
NM_004012 Homo sapiens dystrophin (DMD), transcript variant Dp260-2, mRNA. ORF Sequence $3161.70
Peptide Services
Antibody Services
Protein Services
NM_004013 Homo sapiens dystrophin (DMD), transcript variant Dp140, mRNA. ORF Sequence $1287.30
Peptide Services
Antibody Services
Protein Services
NM_004014 Homo sapiens dystrophin (DMD), transcript variant Dp116, mRNA. ORF Sequence $832.59
Peptide Services
Antibody Services
Protein Services
NM_004015 Homo sapiens dystrophin (DMD), transcript variant Dp71, mRNA. ORF Sequence $537.66
Peptide Services
Antibody Services
Protein Services
NM_004016 Homo sapiens dystrophin (DMD), transcript variant Dp71b, mRNA. ORF Sequence $553.32
Peptide Services
Antibody Services
Protein Services
NM_004017 Homo sapiens dystrophin (DMD), transcript variant Dp71a, mRNA. ORF Sequence $526.35
Peptide Services
Antibody Services
Protein Services
NM_004018 Homo sapiens dystrophin (DMD), transcript variant Dp71ab, mRNA. ORF Sequence $542.01
Peptide Services
Antibody Services
Protein Services
NM_004019 Homo sapiens dystrophin (DMD), transcript variant Dp40, mRNA. ORF Sequence $296.67
Peptide Services
Antibody Services
Protein Services
NM_004020 Homo sapiens dystrophin (DMD), transcript variant Dp140c, mRNA. ORF Sequence $1171.80
Peptide Services
Antibody Services
Protein Services
NM_004021 Homo sapiens dystrophin (DMD), transcript variant Dp140b, mRNA. ORF Sequence $1306.20
Peptide Services
Antibody Services
Protein Services
NM_004022 Homo sapiens dystrophin (DMD), transcript variant D140ab, mRNA. ORF Sequence $1292.55
Peptide Services
Antibody Services
Protein Services
NM_004023 Homo sapiens dystrophin (DMD), transcript variant Dp140bc, mRNA. ORF Sequence $1190.70
Peptide Services
Antibody Services
Protein Services


Gene Symbol DMD
Entrez Gene ID 1756
Full Name dystrophin
Synonyms BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.2

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].
Disorder

MIM: 300377

Duchenne muscular dystrophy, 310200 (3); Becker muscular dystrophy,

mRNA Protein Product Sequence Price Select
NM_000109, 238018043 NP_000100, 5032281 dystrophin Dp427c isoform Full Length $0.00
ORF Sequence $0.00
NM_004006, 238018044 NP_003997, 5032283 dystrophin Dp427m isoform Full Length $0.00
ORF Sequence $0.00
NM_004007, 238018045 NP_003998, 5032285 dystrophin Dp427l isoform Full Length $0.00
ORF Sequence $0.00
NM_004009, 238018046 NP_004000, 5032287 dystrophin Dp427p1 isoform Full Length $0.00
ORF Sequence $0.00
NM_004010, 238018047 NP_004001, 5032315 dystrophin Dp427p2 isoform Full Length $0.00
ORF Sequence $0.00
NM_004011, 238018048 NP_004002, 150036268 dystrophin Dp260-1 isoform Full Length $0.00
ORF Sequence $3165.75
NM_004012, 238018049 NP_004003, 5032291 dystrophin Dp260-2 isoform Full Length $0.00
ORF Sequence $3161.70
NM_004013, 238018050 NP_004004, 5032293 dystrophin Dp140 isoform Full Length $3334.50
ORF Sequence $1287.30
NM_004014, 238018051 NP_004005, 5032295 dystrophin Dp116 isoform Full Length $2530.35
ORF Sequence $832.59
NM_004015, 238018052 NP_004006, 5032297 dystrophin Dp71 isoform Full Length $1618.05
ORF Sequence $537.66
NM_004016, 238018053 NP_004007, 5032299 dystrophin Dp71b isoform Full Length $1606.85
ORF Sequence $553.32
NM_004017, 238018054 NP_004008, 5032301 dystrophin Dp71a isoform Full Length $1604.40
ORF Sequence $526.35
NM_004018, 238018055 NP_004009, 5032303 dystrophin Dp71ab isoform Full Length $1593.20
ORF Sequence $542.01
NM_004019, 150036270 NP_004010, 5032305 dystrophin Dp40 isoform Full Length $455.59
ORF Sequence $296.67
NM_004020, 291490676 NP_004011, 291490677 dystrophin Dp140c isoform Full Length $3186.00
ORF Sequence $1171.80
NM_004021, 238018057 NP_004012, 5032309 dystrophin Dp140b isoform Full Length $3320.10
ORF Sequence $1306.20
NM_004022, 238018058 NP_004013, 5032311 dystrophin Dp140ab isoform Full Length $3302.55
ORF Sequence $1292.55
NM_004023, 238018059 NP_004014, 5032313 dystrophin Dp140bc isoform Full Length $3171.60
ORF Sequence $1190.70
KEGG
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05416Viral myocarditis
hsa05414Dilated cardiomyopathy
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_16969Striated Muscle Contraction
REACT_17044Muscle contraction
Homo sapiens (human)DMDNP_004001.1
Pan troglodytes (chimpanzee)LOC465559XP_003317462.2
Canis lupus familiaris (dog)DMDNP_001003343.1
Mus musculus (house mouse)DmdNP_031894.1
Gallus gallus (chicken)DMDNP_990630.1
Drosophila melanogaster (fruit fly)DysNP_001036728.1
Caenorhabditis elegansdys-1NP_492946.1
GeneCards DMD
PDB 3UUN, 1EG3, 1DXX, 1EG4
UniProt A7E212, P11532, Q16484, Q4G0X0, A1L0U9
MIM 300377
Ensembl ENSG00000198947
HGNC 2928
HPRD 02303

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

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