Description

  • Product name

    Recombinant Human Telethonin protein
  • Expression system

    Wheat germ
  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHET YHQQGQCQVLVQRSPWLMMRMGIHGRGLQEYQLPYQRVLPLPIFTPAKMG ATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPG ALRRSLSRSMSQEAQRG
    • Amino acids

      1 to 167
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160095 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • 19 kDa sarcomeric protein
    • CMD1N
    • CMH25
    • LGMD2G
    • Limb girdle muscular dystrophy 2G (autosomal recessive)
    • T-cap
    • Tcap
    • TELE
    • Telethonin
    • TELT_HUMAN
    • Titin cap protein
    • Titin-cap
    see all
  • Function

    Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.
  • Tissue specificity

    Heart and skeletal muscle.
  • Involvement in disease

    Defects in TCAP are a cause of cardiomyopathy familial hypertrophic (CMH) [MIM:192600]; also designated FHC or HCM. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
    Defects in TCAP are a cause of limb-girdle muscular dystrophy type 2G (LGMD2G) [MIM:601954]. LGMD2G is an autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.
    Defects in TCAP are the cause of cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
  • Cellular localization

    Cytoplasm > myofibril > sarcomere.
  • Information by UniProt

Images

  • ab160095 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160095 has not yet been referenced specifically in any publications.

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