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Mouse Anti-DMD Recombinant Antibody (2Q1101) (CBMAB-D1186-YC)


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Summary

Host Animal
Mouse
Specificity
Human, Dog, Mouse, Rabbit, Rat
Clone
2Q1101
Antibody Isotype
IgG2a
Application
WB, IHC

Basic Information

Specificity
Human, Dog, Mouse, Rabbit, Rat
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Dystrophin
Introduction
DMD 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.
Entrez Gene ID
Human1756
Mouse13405
Rat24907
Dog606758
Rabbit100355731
UniProt ID
HumanP11532
MouseP11531
RatP11530
DogO97592
Alternative Names
Dystrophin; Dystrophin (Muscular Dystrophy, Duchenne And Becker Types), Includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272; Muscular Dystrophy, Duchenne And Becker Types; Mental Retardation, X-Linked 85; DXS142; DXS164; DXS206; DXS230; DXS239;
Function
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.
Biological Process
Cardiac muscle cell action potential Source: BHF-UCL
Cardiac muscle contraction Source: BHF-UCL
Cellular protein-containing complex assembly Source: BHF-UCL
Cellular protein localization Source: BHF-UCL
Maintenance of blood-brain barrier Source: ARUK-UCL
Motile cilium assembly Source: BHF-UCL
Muscle cell cellular homeostasis Source: BHF-UCL
Muscle cell development Source: BHF-UCL
Muscle organ development Source: ProtInc
Negative regulation of peptidyl-cysteine S-nitrosylation Source: BHF-UCL
Negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
Peptide biosynthetic process Source: UniProtKB
Positive regulation of neuron differentiation Source: BHF-UCL
Positive regulation of neuron projection development Source: BHF-UCL
Positive regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
Regulation of cellular response to growth factor stimulus Source: BHF-UCL
Regulation of heart rate Source: BHF-UCL
Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
Regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
Regulation of skeletal muscle contraction Source: BHF-UCL
Regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: BHF-UCL
Regulation of voltage-gated calcium channel activity Source: BHF-UCL
Response to muscle stretch Source: BHF-UCL
Cellular Location
Cytoskeleton; Sarcolemma; Postsynaptic cell membrane. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals.
Involvement in disease
Duchenne muscular dystrophy (DMD):
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.
Becker muscular dystrophy (BMD):
A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.
Cardiomyopathy, dilated, X-linked 3B (CMD3B):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
More Infomation

Mendell, J. R., Sahenk, Z., Lehman, K., Nease, C., Lowes, L. P., Miller, N. F., ... & Rodino-Klapac, L. R. (2020). Assessment of systemic delivery of rAAVrh74. MHCK7. micro-dystrophin in children with Duchenne muscular dystrophy: a nonrandomized controlled trial. JAMA neurology, 77(9), 1122-1131.

Naidoo, M., & Anthony, K. (2020). Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy. Molecular neurobiology, 57(3), 1748-1767.

Frank, D. E., Schnell, F. J., Akana, C., El-Husayni, S. H., Desjardins, C. A., Morgan, J., ... & SKIP-NMD Study Group. (2020). Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology, 94(21), e2270-e2282.

Shimizu-Motohashi, Y., Komaki, H., Motohashi, N., Takeda, S. I., Yokota, T., & Aoki, Y. (2019). Restoring dystrophin expression in Duchenne muscular dystrophy: current status of therapeutic approaches. Journal of personalized medicine, 9(1), 1.

Amoasii, L., Li, H., Zhang, Y., Min, Y. L., Sanchez-Ortiz, E., Shelton, J. M., ... & Olson, E. N. (2019). In vivo non-invasive monitoring of dystrophin correction in a new Duchenne muscular dystrophy reporter mouse. Nature communications, 10(1), 1-8.

Duan, D. (2018). Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy. Molecular therapy, 26(10), 2337-2356.

Duan, D. (2018). Micro-dystrophin gene therapy goes systemic in Duchenne muscular dystrophy patients. Human gene therapy, 29(7), 733-736.

Amoasii, L., Hildyard, J. C., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., ... & Olson, E. N. (2018). Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 362(6410), 86-91.

Charleston, J. S., Schnell, F. J., Dworzak, J., Donoghue, C., Lewis, S., Chen, L., ... & Mendell, J. R. (2018). Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production. Neurology, 90(24), e2146-e2154.

Lim, K. R. Q., Maruyama, R., & Yokota, T. (2017). Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug design, development and therapy, 11, 533.

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For research use only. Not intended for any clinical use.

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