Primary Identifier | MGI:1202302 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 227099 |
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 enzyme binding activity. Acts upstream of or within mismatch repair. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in Lynch syndrome; dermatomyositis; pancreatic ductal carcinoma; and polymyositis. Orthologous to human PMS1 (PMS1 homolog 1, mismatch repair system component). PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions. [provided by MGI curators] |