Key features and details
- Rabbit polyclonal to DKC1/Dyskerin
- Suitable for: WB, IHC-P, ICC/IF
- Reacts with: Human
- Isotype: IgG
Product nameAnti-DKC1/Dyskerin antibody
See all DKC1/Dyskerin primary antibodies
DescriptionRabbit polyclonal to DKC1/Dyskerin
Tested applicationsSuitable for: WB, IHC-P, ICC/IFmore details
Species reactivityReacts with: Human
Recombinant fragment corresponding to Human DKC1/Dyskerin aa 221-449.
Database link: O60832
- A549, HeLa, HepG2 and HCT116 whole cell lysates; HeLa cells; Human BT474 xenograft tissue.
General notesKeep as concentrated solution.
This product was previously labelled as DKC1
Storage instructionsShipped at 4°C. Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
Storage bufferpH: 7.00
Preservative: 0.025% Proclin 300
Constituents: PBS, 1% BSA, 20% Glycerol
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab126049 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/3000. Predicted molecular weight: 58 kDa.|
|IHC-P||1/100 - 1/1000. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.|
|ICC/IF||1/100 - 1/1000.|
FunctionIsoform 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).
Tissue specificityUbiquitously expressed.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the pseudouridine synthase TruB family.
Contains 1 PUA domain.
Cellular localizationCytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.
- Information by UniProt
- CBF5 antibody
- CBF5 homolog antibody
- Cbf5p homolog antibody
All lanes : Anti-DKC1/Dyskerin antibody (ab126049) at 1/1000 dilution
Lane 1 : HeLa whole cell lysate
Lane 2 : HepG2 whole cell lysate
Lysates/proteins at 30 µg per lane.
Predicted band size: 58 kDa
7.5% SDS PAGE
ab126049 at 1/250 dilution, staining DKC1/Dyskerin in Paraffin-embedded BT474 xenograft tissue by Immunohistochemistry.
ab126049, at 1/500 dilution, staining DKC1/Dyskerin in HeLa cells by Immunofluorescence (green). Alpha-tubulin filaments were labeled in Red.
ab126049 has not yet been referenced specifically in any publications.