Anti-DKC1 Antibody Picoband® Biotin Conjugated

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs) . This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants.

DKC1; NOLA4; H/ACA ribonucleoprotein complex subunit DKC1; EC 5.4.99.-; CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1

E.coli-derived human DKC1 recombinant protein (Position: R19-R447) . Human DKC1 shares 94.2% and 87.9% amino acid (aa) sequence identity with mouse and rat DKC1, respectively.

1. Aalfs, C. M., van den Berg, H., Barth, P. G., Hennekam, R. C. M. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Europ. J. Pediat. 154: 304-308, 1995. 2. Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., and 45 others. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Nat. Acad. Sci. 117: 15137-15147, 2020. 3. Cohen, S. B., Graham, M. E., Lovrecz, G. O., Bache, N., Robinson, P. J., Reddel, R. R. Protein composition of catalytically active human telomerase from immortal cells. Science 315: 1850-1853, 2007.