DKC1 Recombinant Rabbit mAb (S-5200-48)

DKC1 (full name dyskerin pseudouridine synthase 1, commonly known as dyskerin) is a highly conserved nucleolar protein that serves as the catalytic subunit of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex and plays dual core functions in RNA pseudouridylation and telomere maintenance. Its molecular function depends on H/ACA snoRNA guidance, which base-pairs the complex to specific sites on substrates such as rRNA and snRNA and catalyzes the isomerization of uridine to pseudouridine; this modification is essential for ribosome biogenesis and small nuclear RNA maturation. At the same time, DKC1 is also a key component of the telomerase holoenzyme complex; by binding to the H/ACA domain of the telomerase RNA component (TERC), it participates in TERC stabilization, processing, and correct trafficking to Cajal bodies, thereby indirectly supporting telomere extension. In clinical genetics, pathogenic variants in the DKC1 gene (located at Xq28) are the main cause of X-linked dyskeratosis congenita (DKCX), a disease characterized by the triad of reticular skin pigmentation, nail dystrophy, and oral leukoplakia, often accompanied by bone marrow failure and susceptibility to malignancy; in addition, specific DKC1 mutations can also cause Hoyeraal-Hreidarsson syndrome and CHINE1 syndrome, which is associated with cataracts, hearing loss, nephrotic syndrome, and enterocolitis.