Automated description from the Alliance of Genome Resources (Release 7.2.0)
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 box H/ACA sno(s)RNA metabolic process; positive regulation of telomere maintenance via telomerase; and rRNA pseudouridine synthesis. 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).
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