| Primary Identifier | MGI:1913388 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 66138 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein heterodimerization activity and rRNA (guanine) methyltransferase activity. Predicted to be involved in positive regulation of rRNA processing and rRNA (guanine-N7)-methylation. Predicted to be located in nucleoplasm and perinuclear region of cytoplasm. Predicted to be active in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Heterozygotes show partial lethality throughout fetal growth and development, increased citrate synthase activity indicating greater mitochondrial density, and male-specific mitochondrial dysfunction. [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
