Recombinant Human DES, GST-tagged

• Cat.No.: DES-11943H
• Product Overview: Recombinant Human DES protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.

Specification

• Species: Human
• Source: E.coli
• Tag: GST
• Protein Length: 121-470a.a.
• Description: 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.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.

Gene Information

• Gene Name: DES desmin [ Homo sapiens ]
• Official Symbol: DES
• Synonyms: DES; desmin; CMD1I; CSM1; CSM2; intermediate filament protein; FLJ12025; FLJ39719; FLJ41013; FLJ41793
• Gene ID: 1674
• mRNA Refseq: NM_001927
• Protein Refseq: NP_001918
• MIM: 125660
• UniProt ID: P17661
• Chromosome Location: 2q35
• Pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem; Aurora B signaling, organism-specific biosystem; Dilated cardiomyopathy, organism-specific biosystem; Dilated cardiomyopathy, conserved biosystem; Hypertrophic cardiomyopathy (HCM), organism-specific biosystem; Hypertrophic cardiomyopathy (HCM), conserved biosystem
• Function: nebulin binding; protein binding; structural constituent of cytoskeleton