Description_x000D_ General description_x000D_ JPH1 (junctophilin 1) is a subtype of the junctional membrane complex protein called JP, which contains three subtypes. This subtype is predominantly expressed in skeletal muscles. It is expressed in the junctional membrane complexes of excitable cells, and exists as a transmembrane protein. This gene is localized to human chromosome 8q21.1._x000D_ Immunogen_x000D_ Junctophilin-1 recombinant protein epitope signature tag (PrEST)_x000D_ Application_x000D_ Anti-JPH1 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org). Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige._x000D_ Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below._x000D_ Western Blotting (1 paper)_x000D_ Physical form_x000D_ Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide_x000D_ Disclaimer_x000D_ Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals._x000D_ Legal Information_x000D_ Prestige Antibodies is a registered trademark of Sigma-Aldrich Co. LLC_x000D_ Biochem/physiol Actions_x000D_ Junctophilins span the membrane of intracellular Ca2+ storage vesicles and aids in their interaction with cell-surface membrane, thus, facilitating the formation of junctional membrane complexes. Studies in mice show that this protein plays a crucial role in the formation of triads during skeletal muscle development. JPH1 and GADP-1 are parts of a common pathway, and hence, interdependent. Thus, mutations in GDAP-1 (ganglioside-induced differentiation-associated protein 1) might phenotypically be manifested by JPH1. Therefore, JPH1 is implicated in Charcot-Marie-Tooth (CMT) disease._x000D_ Features and Benefits_x000D_ Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section._x000D_ Every Prestige Antibody is tested in the following ways:_x000D_ • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues._x000D_ • Protein array of 364 human recombinant protein fragments._x000D_ • Validated for multiple commonly used applications such as IHC (Immunohistochemistry), IF (Immunofluorescence), and WB (Western Blot)_x000D_ Linkage_x000D_ Corresponding Antigen APREST71724.