| Primary Identifier | MGI:1861727 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 245474 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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 RNA metabolic process; positive regulation of telomere maintenance via telomerase; and telomerase holoenzyme complex assembly. 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). PHENOTYPE: Early generation male mice hemizygous for a hypomorphic allele exhibit bone marrow failure, dyskeratosis, extramedullary hematopoieis, splenomegaly, lung and kidney abnormalities, increased tumor incidence, and altered ribosome function; decreased telomere length is noted only in later generations. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
