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.

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Western blotting analysis using dyskerin pseudouridine synthase 1 antibody . Total cell lysates (20 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with dyskerin pseudouridine synthase 1 antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Western blotting analysis using dyskerin pseudouridine synthase 1 antibody . Dyskerin pseudouridine synthase 1 expression in wild type (WT) and dyskerin pseudouridine synthase 1 (DKC1) shRNA knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with dyskerin pseudouridine synthase 1 antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Flow cytometric analysis of Dyskerin pseudouridine synthase 1 expression in HepG2 cells using Dyskerin pseudouridine synthase 1 antibody . Green, isotype control; red, Dyskerin pseudouridine synthase 1.

Validation of Dyskerin pseudouridine synthase 1 knockdown using flow cytometry. Wild-type(WT, Blue) and knockdown(KD, Green) HeLa cells were stained with Dyskerin pseudouridine synthase 1 antibody and analyzed using BD flow cytometer.

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