Dystrophin (DMD) (NM_004018) Human Mass Spec Standard

CAT#: PH315529

DMD MS Standard C13 and N15-labeled recombinant protein (NP_004009)


  View other "Dystrophin" proteins (16)

USD 3,255.00

3 Weeks*

Size
    • 10 ug

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Specifications

Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC215529
Predicted MW 70.6 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Storage Store at -80°C. Avoid repeated freeze-thaw cycles.
Stability Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_004009
RefSeq Size 4552
RefSeq ORF 1866
Synonyms BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Locus ID 1756
UniProt ID P11532
Cytogenetics Xp21.2-p21.1
Summary 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]
Protein Pathways Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy, Hypertrophic cardiomyopathy (HCM), Viral myocarditis

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