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Desmin (DES) (NM_001927) Human Recombinant Protein

Product Specifications

Background

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]

Overview

Recombinant protein of human desmin (DES), full length, with C-terminal flag tag, expressed in sf9 cells

Synonyms

CDCD3; CMD1F; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R

Gene ID

1674

UniProt

P17661, P07306, Q53SB5, Q6FGQ5

Accession Number mRNA

NM_001927

Chromosomal Location

2q35

Expression System

Sf9

Tag

C-DDK

Related Pathways

Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy, Hypertrophic cardiomyopathy (HCM)

Field of Research

Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy, Hypertrophic cardiomyopathy (HCM)

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

50mM Tris-HCl pH8.0, 150mM NaCl, 10%glycerol

Function

Druggable Genome

Molecular Weight

54 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

DES

Species

Human

Protein ID

NP_001662

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/1674

Uniprot URL

https://www.uniprot.org/uniprot/P17661

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_001927

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_001662

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