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Quantity: 100 ul                                                                                          Application: WB

Predicted | Observed MW: 58 kDa                                                              Uniprot ID: O60832

Background:

DKC1 is also known as NOLA4, which is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. DKC1 and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. DKC1 is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins, and lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in DKC1 cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene [provided by RefSeq].

Other Names:

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

Source and Purity:

Rabbit polyclonal antibodies were produced by immunizing animals with a GST-fusion protein containing the C-terminal region of human DKC1. Antibodies were purified by affinity purification using immunogen.

Storage Buffer and Condition:

Supplied in 1 x PBS (pH 7.4), 100 ug/ml BSA, 40% Glycerol, 0.01% NaN₃. Store at -20 °C. Stable for 6 months from date of receipt.

Species Specificity:

Human

Tested Applications:

WB: 1:1,000-1:3,000 (detect endogenous protein*)

*: The apparent protein size on WB may be different from the calculated M.W. due to modifications.

Product Data: