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Biological Description
| Specificity | DKC1/Dyskerin Antibody (Rabbit mAb) [P3C15] detects endogenous levels of total DKC1/Dyskerin proteins. |
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| Background | Dyskerin, encoded by DKC1, is the catalytic pseudouridine synthase subunit of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which also contains the structural proteins NOP10, NHP2 and GAR1 assembled together with a guide H/ACA-box small nucleolar or Cajal body RNA that directs the complex to specific target sites. This complex catalyzes pseudouridylation, the isomerization of uridine residues into pseudouridine, at defined positions within ribosomal RNA and small nuclear RNA, a modification that stabilizes the folded conformation of these RNAs and supports proper ribosome and spliceosome function. The same H/ACA structural motif is present within the RNA component of telomerase (hTR), and dyskerin binds this H/ACA domain to stabilize hTR and support correct processing and assembly of the telomerase holoenzyme, extending dyskerin's H/ACA-dependent binding activity from ribosomal RNA maturation to maintenance of the telomerase ribonucleoprotein itself. Linkage analysis of a family with pulmonary fibrosis and features of dyskeratosis congenita, lacking any coding or splicing mutation in DKC1, instead mapped disease inheritance to the DKC1 locus on the X chromosome and found reduced dyskerin protein levels in affected males, and these individuals showed correspondingly decreased levels of telomerase RNA together with very short telomeres, directly linking a quantitative reduction in dyskerin protein, rather than only structural DKC1 mutations, to destabilization of telomerase RNA and telomere shortening. Because reduced dyskerin function compromises both telomerase RNA stability and ribosomal RNA pseudouridylation, X-linked dyskeratosis congenita caused by DKC1 mutations or reduced dyskerin expression presents as a disorder of impaired telomere maintenance affecting rapidly proliferating tissues including bone marrow and skin, and this same dual role positions dyskerin as a factor relevant to bone marrow failure syndromes, pulmonary fibrosis and, when dyskerin activity is instead elevated, to increased telomerase activity and ribosomal output implicated in some cancers. |
Usage Information
| Application | WB, IHC, IF | Dilution |
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| Reactivity | Human | ||||||||
| Source | Rabbit Monoclonal Antibody | MW | 58 kDa | ||||||
| Storage Buffer | PBS, pH 7.2+50% Glycerol+0.05% BSA+0.01% NaN3 | Storage (from the date of receipt) |
-20°C (avoid freeze-thaw cycles), 2 years | ||||||
References
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