| Primary Identifier | MGI:2155865 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 382985 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. Involved in mitochondrial DNA replication and positive regulation of G0 to G1 transition. Acts upstream of or within several processes, including DNA repair; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator; and nucleoside phosphate metabolic process. Predicted to be located in nucleoplasm. Predicted to be part of ribonucleoside-diphosphate reductase complex. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5; mitochondrial DNA depletion syndrome 8a; and mitochondrial DNA depletion syndrome 8b. Orthologous to human RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B). PHENOTYPE: Loss of both functional copies of this gene results in growth retardation, multiple organ failure, and ultimately premature death due to kidney failure. Spontaneous mutation rates and apoptosis are increased in the kidneys due to an attenuation of dNTP pools and a resulting impairment of DNA repair. [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
