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Sequence in raw or FASTA format:

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DMD dystrophin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000109 Homo sapiens dystrophin (DMD), transcript variant Dp427c, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_004006 Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_004009 Homo sapiens dystrophin (DMD), transcript variant Dp427p1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_004010 Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_004011 Homo sapiens dystrophin (DMD), transcript variant Dp260-1, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_004012 Homo sapiens dystrophin (DMD), transcript variant Dp260-2, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_004013 Homo sapiens dystrophin (DMD), transcript variant Dp140, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_004014 Homo sapiens dystrophin (DMD), transcript variant Dp116, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_004015 Homo sapiens dystrophin (DMD), transcript variant Dp71, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_004016 Homo sapiens dystrophin (DMD), transcript variant Dp71b, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_004017 Homo sapiens dystrophin (DMD), transcript variant Dp71a, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_004018 Homo sapiens dystrophin (DMD), transcript variant Dp71ab, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_004019 Homo sapiens dystrophin (DMD), transcript variant Dp40, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_004020 Homo sapiens dystrophin (DMD), transcript variant Dp140c, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_004021 Homo sapiens dystrophin (DMD), transcript variant Dp140b, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_004022 Homo sapiens dystrophin (DMD), transcript variant D140ab, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_004023 Homo sapiens dystrophin (DMD), transcript variant Dp140bc, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006724468 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724469 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724470 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724471 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724472 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724473 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724474 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724475 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724476 PREDICTED: Homo sapiens dystrophin (DMD), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand $4749.00 40

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Related Services

Gene Symbol DMD
Entrez Gene ID 1756
Full Name dystrophin
Synonyms BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
General protein information
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 ORF Sequence $-1.00
NM_004006, 238018044 NP_003997, 5032283 dystrophin Dp427m isoform ORF Sequence $-1.00
NM_004009, 238018046 NP_004000, 5032287 dystrophin Dp427p1 isoform ORF Sequence $-1.00
NM_004010, 238018047 NP_004001, 5032315 dystrophin Dp427p2 isoform ORF Sequence $-1.00
NM_004011, 238018048 NP_004002, 150036268 dystrophin Dp260-1 isoform ORF Sequence $3500.00
NM_004012, 238018049 NP_004003, 5032291 dystrophin Dp260-2 isoform ORF Sequence $3500.00
NM_004013, 238018050 NP_004004, 5032293 dystrophin Dp140 isoform ORF Sequence $1500.00
NM_004014, 238018051 NP_004005, 5032295 dystrophin Dp116 isoform ORF Sequence $750.00
NM_004015, 238018052 NP_004006, 5032297 dystrophin Dp71 isoform ORF Sequence $700.00
NM_004016, 238018053 NP_004007, 5032299 dystrophin Dp71b isoform ORF Sequence $700.00
NM_004017, 238018054 NP_004008, 5032301 dystrophin Dp71a isoform ORF Sequence $700.00
NM_004018, 238018055 NP_004009, 5032303 dystrophin Dp71ab isoform ORF Sequence $700.00
NM_004019, 150036270 NP_004010, 5032305 dystrophin Dp40 isoform ORF Sequence $400.00
NM_004020, 291490676 NP_004011, 291490677 dystrophin Dp140c isoform ORF Sequence $1500.00
NM_004021, 238018057 NP_004012, 5032309 dystrophin Dp140b isoform ORF Sequence $1500.00
NM_004022, 238018058 NP_004013, 5032311 dystrophin Dp140ab isoform ORF Sequence $1500.00
NM_004023, 238018059 NP_004014, 5032313 dystrophin Dp140bc isoform ORF Sequence $1500.00
XM_006724468, 578837828 XP_006724531, 578837829 dystrophin isoform X1 ORF Sequence $-1.00
XM_006724469, 578837831 XP_006724532, 578837832 dystrophin isoform X2 ORF Sequence $-1.00
XM_006724470, 578837833 XP_006724533, 578837834 dystrophin isoform X3 ORF Sequence $-1.00
XM_006724471, 578837835 XP_006724534, 578837836 dystrophin isoform X4 ORF Sequence $-1.00
XM_006724472, 578837837 XP_006724535, 578837838 dystrophin isoform X5 ORF Sequence $-1.00
XM_006724473, 578837839 XP_006724536, 578837840 dystrophin isoform X6 ORF Sequence $-1.00
XM_006724474, 578837841 XP_006724537, 578837842 dystrophin isoform X7 ORF Sequence $-1.00
XM_006724475, 578837843 XP_006724538, 578837844 dystrophin isoform X8 ORF Sequence $-1.00
XM_006724476, 578837845 XP_006724539, 578837846 dystrophin isoform X9 ORF Sequence $4500.00
KEGG
hsa05416Viral myocarditis
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_16969Striated Muscle Contraction
REACT_17044Muscle contraction
REACT_118779Extracellular matrix organization
REACT_163874Non-integrin membrane-ECM interactions
Homo sapiens (human)DMDNP_003997.1
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_001262730.1
Process
IDNameEvidence
GO:0002027regulation of heart rateIMP
GO:0007517muscle organ developmentNAS
GO:0010880regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumISS
GO:0010881regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionISS
GO:0010976positive regulation of neuron projection developmentIMP
GO:0014809regulation of skeletal muscle contraction by regulation of release of sequestered calcium ionISS
GO:0014819regulation of skeletal muscle contractionISS
GO:0030049muscle filament slidingTAS
GO:0030198extracellular matrix organizationTAS
GO:0033137negative regulation of peptidyl-serine phosphorylationISS
GO:0034613cellular protein localizationIMP
GO:0043043peptide biosynthetic processIDA
GO:0043623cellular protein complex assemblyISS
GO:0044458motile cilium assemblyTAS
GO:0045666positive regulation of neuron differentiationIMP
GO:0060048cardiac muscle contractionIMP
GO:0060314regulation of ryanodine-sensitive calcium-release channel activityISS
GO:0086001cardiac muscle cell action potentialISS
GO:0090287regulation of cellular response to growth factor stimulusIMP
GO:1901385regulation of voltage-gated calcium channel activityISS
GO:1902083negative regulation of peptidyl-cysteine S-nitrosylationISS
GO:2000651positive regulation of sodium ion transmembrane transporter activityISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005634nucleusTAS
GO:0005829cytosolTAS
GO:0005856cytoskeletonIEA
GO:0005886plasma membraneTAS
GO:0009986cell surfaceIDA
GO:0015629actin cytoskeletonTAS
GO:0016010dystrophin-associated glycoprotein complexIDA
GO:0016010dystrophin-associated glycoprotein complexNAS
GO:0016010dystrophin-associated glycoprotein complexTAS
GO:0016013syntrophin complexTAS
GO:0016328lateral plasma membraneTAS
GO:0030054cell junctionIEA
GO:0030175filopodiumIDA
GO:0031527filopodium membraneIDA
GO:0042383sarcolemmaIDA
GO:0043034costamereIDA
GO:0043234protein complexIDA
GO:0045121membrane raftTAS
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0002162dystroglycan bindingIPI
GO:0003779actin bindingIDA
GO:0003779actin bindingTAS
GO:0005200structural constituent of cytoskeletonTAS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0008307structural constituent of muscleIDA
GO:0008307structural constituent of muscleTAS
GO:0017022myosin bindingIDA
GO:0017166vinculin bindingIPI
GO:0050998nitric-oxide synthase bindingISS
GeneCards DMD
UniProt A7E212, P11532, Q16484, Q4G0X0, A1L0U9
Vega OTTHUMG00000021336
MIM 300377
Ensembl ENSG00000198947
HGNC 2928
HPRD 02303

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

What is the normal function of the DMD gene?

DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain.

In skeletal and cardiac muscles, dystrophin is part of a group of proteins (a protein complex) that work together to strengthen muscle fibers and protect them from injury as muscles contract and relax. The dystrophin complex acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix). The dystrophin complex may also play a role in cell signaling by interacting with proteins that send and receive chemical signals.

Little is known about the function of dystrophin in nerve cells. Research suggests that the protein is important for the normal structure and function of synapses, which are specialized connections between nerve cells where cell-to-cell communication occurs.

Interactant

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