| Primary Identifier | MGI:109352 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 22256 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables uracil DNA N-glycosylase activity. Acts upstream of or within isotype switching and somatic hypermutation of immunoglobulin genes. Located in mitochondrion and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and olfactory epithelium. Human ortholog(s) of this gene implicated in dysgammaglobulinemia and immunodeficiency with hyper IgM type 5. Orthologous to human UNG (uracil DNA glycosylase). PHENOTYPE: Homozygous null mutants incorporate an elevated level of uracil into DNA of dividing cells. In hypermutation at immunoglobulin genes, mutations at C/G pairs are shifted toward transitions, and class-switch recombination is reduced. Homozygous null mutants display increased ischemic brain injury. [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
