Primary Identifier | MGI:101816 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 17685 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity and DNA binding activity. Contributes to guanine/thymine mispair binding activity. Involved in positive regulation of isotype switching to IgA isotypes and positive regulation of isotype switching to IgG isotypes. Acts upstream of or within several processes, including DNA metabolic process; determination of adult lifespan; and intracellular signal transduction. Located in nucleus. Part of MutSalpha complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and tail dorsal root ganglion. Used to study Lynch syndrome and colorectal cancer. Human ortholog(s) of this gene implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Orthologous to human MSH2 (mutS homolog 2). PHENOTYPE: Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors. [provided by MGI curators] |