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DMD
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.
Protein class
Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Transporters
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Excitatory neurons, Oligodendrocyte precursor cells, Inhibitory neurons, Oligodendrocytes, Cardiomyocytes, Rod photoreceptor cells)
Immune cell specificity
Immune cell enhanced (neutrophil)
Cell line specificity
Cell line enhanced (AF22, Hep G2, RH-30, SuSa)
Interaction
Interacts with SYNM (By similarity). Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (PubMed:7844150, PubMed:8576247). Interacts with KRT19 (PubMed:16000376). Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245). Interacts with CMYA5 (By similarity). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity). Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Interacts with DTNB (By similarity). Interacts with PGM5; the interaction is direct (By similarity).
Molecular function
Actin-binding
More Types Infomation
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- Species Reactivity: Human
- Type: Mouse antibody
- Application: IHC-P, WB
- Mouse Anti-DMD Recombinant Antibody (clone 23C9) (MOB-1406z)
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: ELISA, ICC, IF, IHC
- Rabbit Anti-DMD Recombinant Antibody (clone JF1-022) (MRO-0505-CN)
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IHC
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- Derivation: Phage display library
- Species Reactivity: Mouse, Rat, Human
- Type: Rabbit IgG
- Application: WB
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: ELISA, IHC
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For Research Use Only. Not For Clinical Use.