Description_x000D_ General description_x000D_ Dyskeratosis congenita 1 (DKC1) gene encodes dyskerin, which is a 514-amino-acid protein. This gene consists of 15 exons comprising a region of 15kb, with the internal exons size range of 65-185bp._x000D_ Immunogen_x000D_ H/ACA ribonucleoprotein complex subunit 4 recombinant protein epitope signature tag (PrEST)_x000D_ Application_x000D_ All Prestige Antibodies®Powered by Atlas Antibodies 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. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige._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_ Mutation in the DKC1 (Dyskeratosis congenita 1) gene will lead to the X-linked form of the disease called as Dyskeratosis congenita (DKC), a rare inherited bone marrow-failure syndrome. DKC is characterised by multiple features including nail dystrophy, abnormal skin pigmentation and increased susceptibility to cancer. Altered DKC1 gene will cause depletion in bone marrow production which is one of the major causes for premature death. DKC is a nucleolar protein with multiple roles including centromere function, rRNA transcription and nucleocytoplasmic trafficking etc._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 APREST74148.