H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene. The encoded protein, known as dyskerin, is a highly conserved nucleolar enzyme that plays key roles in rRNA modification, telomerase function, and ribosome biogenesis.
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H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene. The encoded protein, known as dyskerin, is a highly conserved nucleolar enzyme that plays key roles in rRNA modification, telomerase function, and ribosome biogenesis.
== Structure == Dyskerin is an L-shaped protein consisting of approximately 514 amino acid residues, with a molecular weight of about 58 kilo-daltons. It belongs to the TruB family of pseudouridine synthase enzymes and forms the catalytic core of the H/ACA box snoRNP (small nucleolar ribonucleoprotein) complex. The DKC1 gene is located on the X chromosome, in a tail-to-tail orientation with the gene encoding palmitoylated erythrocyte membrane protein 1 (MPP1), and is transcribed in a telomere-to-centromere direction.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).