Desmin (DES) (NM_001927) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression Host	E. coli
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) Val260-Leu470
Tag	N-His
Predicted MW	26.7 kDa
Concentration	lot specific
Purity	>95% as determined by SDS-PAGE and Coomassie blue staining
Buffer	Provided lyophilized from a 0.2 μm filtered solution of 20 mM Tris-HCl, 150 mM NaCl
Storage	Store at -80°C.
Stability	Stable for at least 6 months from date of receipt under proper storage and handling conditions.
Endotoxin	< 0.1 EU per µg protein as determined by LAL test
Reference Data
RefSeq	NP_001918
Locus ID	1674
UniProt ID	P17661, Q53SB5
Cytogenetics	2q35
Synonyms	CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R
Summary	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Protein Families	Druggable Genome
Protein Pathways	Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy, Hypertrophic cardiomyopathy (HCM)

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