AAA52316.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
57,953 Da
NCBI Official Full Name
DMD
NCBI Official Synonym Full Names
dystrophin
NCBI Official Synonym Symbols
BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272 [Similar Products]
NCBI Protein Information
dystrophin
UniProt Protein Name
Dystrophin
UniProt Entry Name
DMD_HUMAN
NCBI Summary for DMD
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]
UniProt Comments for DMD
dystrophin: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. Defects in DMD are the cause of Duchenne muscular dystrophy (DMD). DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. Defects in DMD are the cause of Becker muscular dystrophy (BMD). BMD resembles DMD in hereditary and clinical features but is later in onset and more benign. Defects in DMD are a cause of cardiomyopathy dilated X- linked type 3B (CMD3B); also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Cytoskeletal
Chromosomal Location of Human Ortholog: Xp21.2
Cellular Component: filopodium membrane; cell surface; costamere; protein complex; syntrophin complex; cytosol; Z disc; lipid raft; actin cytoskeleton; cell-matrix junction; dystrophin-associated glycoprotein complex; postsynaptic membrane; cytoskeleton; plasma membrane; synapse; nucleus; lateral plasma membrane; sarcolemma; filopodium
Molecular Function: protein binding; myosin binding; zinc ion binding; structural constituent of cytoskeleton; structural constituent of muscle; actin binding; nitric-oxide synthase binding; vinculin binding
Biological Process: muscle maintenance; regulation of skeletal muscle contraction via regulation of the release of sequestered calcium ion; extracellular matrix organization and biogenesis; muscle development; cellular protein complex assembly; regulation of heart rate; regulation of skeletal muscle contraction; negative regulation of peptidyl-serine phosphorylation; positive regulation of neuron differentiation; muscle fiber development; peptide biosynthetic process; muscle filament sliding; cardiac muscle contraction
Disease: Cardiomyopathy, Dilated, 3b; Muscular Dystrophy, Duchenne Type; Muscular Dystrophy, Becker Type
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Products associated with DMD elisa kit
Pathways associated with DMD elisa kit
Diseases associated with DMD elisa kit
Disease Name |
Pubmed Publications |
Muscular Dystrophy, Duchenne Antibodies |
>3738 publications with DMD and Muscular Dystrophy, Duchenne |
CARDIOMYOPATHY, DILATED, 3B Antibodies |
>3738 publications with DMD and CARDIOMYOPATHY, DILATED, 3B |
Nervous System Diseases Antibodies |
>3363 publications with DMD and Nervous System Diseases |
Muscular Dystrophies Antibodies |
>3237 publications with DMD and Muscular Dystrophies |
Muscular Dystrophy, Animal Antibodies |
>778 publications with DMD and Muscular Dystrophy, Animal |
Disease Models, Animal Antibodies |
>357 publications with DMD and Disease Models, Animal |
Heart Diseases Antibodies |
>288 publications with DMD and Heart Diseases |
Fibrosis Antibodies |
>245 publications with DMD and Fibrosis |
Necrosis Antibodies |
>211 publications with DMD and Necrosis |
Cardiomyopathies Antibodies |
>158 publications with DMD and Cardiomyopathies |
Organs/Tissues associated with DMD elisa kit
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