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Recombinant Human Desmin (DES)

ACP01159

Number
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Specifications


Cat.No ACP01159 Target NameDES
FormLiquid or Lyophilized powderExpression SystemE.coli
Expression Range2-470aaMol Weight59.4 kDa
Protein LengthFull Length of Mature ProteinPurityGreater than 85% as determined by SDS-PAGE.
Storage Buffer5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Immunogen Information


Target SpeciesHumanUniprot IDP17661
Background Information
  • Uniprot Id

    P17661

  • Target Species

    Human

  • Target Name

    DES

  • Target Full Name

    Desmin

  • Target Function

    Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin.

  • Target Involvement

    Myopathy, myofibrillar, 1 (MFM1); Cardiomyopathy, dilated 1I (CMD1I); Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome); Limb-girdle muscular dystrophy 2R (LGMD2R)

  • Target Subcellular Location

    Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm. Cell membrane, sarcolemma. Nucleus.

  • Target Protein Families

    Intermediate filament family

  • Target Research Area

    Cancer

  • Target Synonyms

    CMD1I; CSM1; CSM2; DES; DESM_HUMAN; Desmin; FLJ12025; FLJ39719; FLJ41013; FLJ41793; Intermediate filament protein; OTTHUMP00000064865

  • Target 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.

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