Dkc1 - dyskeratosis congenita 1, dyskerin

Predicted to enable box H/ACA snoRNA binding activity; pseudouridine synthase activity; and telomerase RNA binding activity. Predicted to contribute to telomerase activity. Acts upstream of or within ncRNA metabolic process and positive regulation of DNA biosynthetic process. Located in Cajal body and nucleolus. Is expressed in several structures, including brain; epithelium; genitourinary system; skin; and surface ectoderm. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1). [provided by Alliance of Genome Resources, Apr 2022]