| Primary Identifier | MGI:104288 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 18861 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP hydrolysis activity and single base insertion or deletion binding activity. Predicted to contribute to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in positive regulation of isotype switching to IgA isotypes; positive regulation of isotype switching to IgG isotypes; and somatic hypermutation of immunoglobulin genes. Acts upstream of or within mismatch repair and somatic recombination of immunoglobulin gene segments. Part of MutLalpha complex. Is expressed in cerebellum; lower urogenital tract; reproductive system; retina; and urethra epithelium. Human ortholog(s) of this gene implicated in Lynch syndrome; hereditary nonpolyposis colorectal cancer type 4; mismatch repair cancer syndrome; ovarian cancer; and urinary bladder cancer. Orthologous to several human genes including PMS2 (PMS1 homolog 2, mismatch repair system component). PHENOTYPE: Homozygotes for targeted null mutations exhibit microsatellite instability and develop a high incidence of lymphomas with some sarcomas after 6 months of age. Mutant males are sterile, with impaired synapsis and only abnormal spermatozoa. [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
