Anti-DKC1 Antibody Picoband®

SKU: A01535-2

Size: 100 μg

Storage: At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human,Mouse,Rat

Applications: WB,IHC,ICC/IF,Flow Cytometry,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human, Mouse, Rat
Immunohistochemistry (Paraffin-embedded Section), 2-5 μg/ml, Human
Immunocytochemistry/Immunofluorescence, 5 μg/ml, Human
Flow Cytometry (Fixed), 1-3 μg/1x10⁶ cells, Human
ELISA, 0.1-0.5 μg/ml

Gene Name: DKC1

Specificity:

Background: 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.

Immunogen: 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.

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 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.

Uniprot ID: O60832

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross-reactivity with other proteins

Isotype: Rabbit IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 58 kDa

Calculated Molecular Weight: 58 kDa

Gene ID: 1736

Protein Name: H/ACA ribonucleoprotein complex subunit DKC1

Gene Full Name: dyskerin pseudouridine synthase 1

Synonyms: CBF5; CBF5 homolog; DKC; DKC1; Dyskerin; NAP57; NOLA4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101