Dyskerin is a nucleolar protein encoded by the DKC1 gene. This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. The DKC1 gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction.
免疫原
peptide corresponding to the N-terminal region of human DKC1, conjugated to KLH. The corresponding sequence is identical in monkey, bovine, pig and dog and differs by a single amino acid in mouse and rat.
アプリケーション
Anti-DKC1 antibody has been used in immunoblotting.
生物化学的/生理学的作用
Dyskerin and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Mutations in the DKC1 gene cause X-linked dyskeratosis congenita, aplastic anemia and progressive bone marrow failure in most cases. It also leads to a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy. It also causes Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. The overexpression of dyskerin has been observed in many cancers including neuroblastoma, colorectal cancer, lymphoma, breast cancer, melanoma, prostate cancer, ovarian carcinoma and hepatocellular carcinoma.
物理的形状
a solution in 0.01 M phosphate buffered saline pH 7.4, containing 15 mM sodium azide
免責事項
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.
Proceedings of the National Academy of Sciences of the United States of America, 106(47), 19842-19847 (2009-11-10)
As mediators of innate immunity, neutrophils respond to chemoattractants by adopting a highly polarized morphology. Efficient chemotaxis requires the formation of one prominent pseudopod at the cell front characterized by actin polymerization, while local inhibition suppresses the formation of rear