DKC1 encodes dyskerin, a pseudouridine synthase that plays critical roles in telomere maintenance and RNA modification. The protein functions as a component of both the telomerase complex and box H/ACA small nucleolar ribonucleoprotein (snoRNP) particles 1. DKC1 catalyzes pseudouridine formation in ribosomal RNA and contributes to telomerase activity by stabilizing telomerase RNA components 2. Beyond its enzymatic functions, DKC1 promotes cell proliferation by binding to and stabilizing mRNA of ribosomal proteins including RPL10A, RPL22L1, RPL34, and RPS3 3. The protein's catalytic activity is essential for its oncogenic effects, as catalytically inactive mutants fail to accelerate cell growth 3. Clinically, DKC1 mutations cause X-linked dyskeratosis congenita, a multisystem disorder characterized by mucocutaneous abnormalities, bone marrow failure, and cancer predisposition 4. The disease results from defective telomere maintenance, with patients typically presenting very short telomeres 4. DKC1 mutations are also associated with related telomeropathies including Hoyeraal-Hreidarsson syndrome and contribute to familial interstitial lung disease 5. In cancer, DKC1 is upregulated in colorectal tumors and correlates with poor patient outcomes 3.