Anti-DKC1 Antibody Picoband® FITC-vervoeging

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

DKC1

1736

O60832

Human, Mouse, Rat

No cross-reactivity with other proteins

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.

Flow Cytometry

Immunogen affinity purified.

Liquid

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

58 kDa

6

Dyskerin pseudouridine synthase 1

H/ACA ribonucleoprotein complex subunit DKC1

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.