Dystrophin Recombinant Protein | DMD recombinant protein

Recombinant Dystrophin (DMD)

Cat. Num. AAA2122825

• Gene Names: DMD; BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
• Applications: SDS-Page, Western Blot
• Purity: >90%
• Synonyms: Dystrophin; Recombinant Dystrophin (DMD); CMD3B; Muscular Dystrophy; Duchenne And Becker Types; DMD recombinant protein

• Host: E Coli
• Purity/Purification: >90%
• Form/Format: Freeze-dried powder; PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
• Sequence Positions: Ile253~Lys597
• Sequence Length: 3685

• Applicable Applications for DMD recombinant protein: Positive Control, Immunogen, SDS-PAGE, Western Blot (WB)
• Source: Prokaryotic expression
• Species: Human
• Tag: N-terminal His Tag
• Subcellular Location: Membrane, Plasma
• Isoelectric Point: 5.9
• Reconstitution: Reconstitute in PBS or others.
• Preparation and Storage: Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months. Avoid repeated freeze/thaw cycles.; Stability: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.

Product Categories/Family for DMD recombinant protein

Developmental science; Bone metabolism

NCBI and Uniprot Product Information

• NCBI GI #: 313104240
• NCBI GeneID: 1756
• UniProt Accession #: P11532
• Molecular Weight: Predicted Molecular Mass: 42.9kDa; Accurate Molecular Mass: 45kDa
• NCBI Official Full Name: Dystrophin
• NCBI Official Synonym Full Names: dystrophin
• NCBI Official Symbol: DMD
• NCBI Official Synonym Symbols: BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
• NCBI Protein Information: dystrophin
• UniProt Protein Name: Dystrophin
• Protein Family: Dystrophin
• UniProt Gene Name: DMD
• UniProt Entry Name: DMD_HUMAN

NCBI Description

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. [provided by RefSeq, Dec 2016]

Uniprot Description

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; protein complex; costamere; syntrophin complex; Z disc; cytosol; cell-matrix junction; lipid raft; actin cytoskeleton; dystrophin-associated glycoprotein complex; postsynaptic membrane; cytoskeleton; plasma membrane; synapse; nucleus; sarcolemma; lateral plasma membrane; filopodium

Molecular Function: protein binding; myosin binding; zinc ion binding; structural constituent of cytoskeleton; structural constituent of muscle; nitric-oxide synthase binding; actin binding; vinculin binding

Biological Process: regulation of skeletal muscle contraction via regulation of the release of sequestered calcium ion; muscle development; extracellular matrix organization and biogenesis; regulation of heart rate; negative regulation of peptidyl-serine phosphorylation; peptide biosynthetic process; muscle filament sliding; muscle maintenance; cellular protein complex assembly; regulation of skeletal muscle contraction; muscle fiber development; positive regulation of neuron differentiation; cardiac muscle contraction

Disease: Cardiomyopathy, Dilated, 3b; Muscular Dystrophy, Becker Type; Muscular Dystrophy, Duchenne Type