NP_031894.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
425,832 Da
NCBI Official Full Name
dystrophin isoform 1
NCBI Official Synonym Full Names
dystrophin, muscular dystrophy
NCBI Official Synonym Symbols
dys; mdx; pke; Dp71; Dp427; DXSmh7; DXSmh9 [Similar Products]
NCBI Protein Information
dystrophin
UniProt Protein Name
Dystrophin
NCBI Summary for Dmd
This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
UniProt Comments for Dmd
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.
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Products associated with Dmd recombinant protein
Pathways associated with Dmd recombinant protein
Diseases associated with Dmd recombinant protein
Disease Name |
Pubmed Publications |
Muscular Dystrophy, Duchenne Antibodies |
>4406 publications with Dmd and Muscular Dystrophy, Duchenne |
CARDIOMYOPATHY, DILATED, 3B Antibodies |
>4406 publications with Dmd and CARDIOMYOPATHY, DILATED, 3B |
Nervous System Diseases Antibodies |
>3862 publications with Dmd and Nervous System Diseases |
Muscular Dystrophies Antibodies |
>3697 publications with Dmd and Muscular Dystrophies |
Muscular Dystrophy, Animal Antibodies |
>940 publications with Dmd and Muscular Dystrophy, Animal |
Disease Models, Animal Antibodies |
>467 publications with Dmd and Disease Models, Animal |
Muscle Weakness Antibodies |
>351 publications with Dmd and Muscle Weakness |
Heart Diseases Antibodies |
>347 publications with Dmd and Heart Diseases |
Fibrosis Antibodies |
>316 publications with Dmd and Fibrosis |
Necrosis Antibodies |
>254 publications with Dmd and Necrosis |
Organs/Tissues associated with Dmd recombinant protein
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