This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene.
Aliases: PMSL2; HNPCC4; PMS2CL
Entrez GeneID: 5395
Swissprot: P54278
WB Predicted band size: 95.8kDa
Host/Isotype: Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human PMS2 (AA: 748-851) expressed in E. Coli.