The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ELISA: Use at an assay dependent dilution.
IHC-P: Use at a concentration of 5 µg/ml.
Western Blot: Preliminary experiments gave an approx 70-75kDa band in Human Bone Marrow, Duodenum and Skin lysates after 0.01µg/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the predicted size of 57.7kDa. The 70-75kDa band was successfully blocked by incubation with the immunizing peptide.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).
Involvement in disease
Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.
Belongs to the pseudouridine synthase TruB family. Contains 1 PUA domain.
Cytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.
ab60174 at 5ug/ml staining DKC1 in human spleen tissue section by Immunohistochemistry (Formalin/PFA fixed paraffin-embedded sections). Tissue underwent antigen retrieval in steam with citrate buffer (pH 6.0). The AP-staining procedure was used for detection.