Description
Product Characteristics: PMS2 is a highly conserved nuclear protein involved in mismatch repair during DNA replication and has been identified to be composed as a heterodimer of PMS2 and MLH1. PMS is part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4), Turcot syndrome (an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas) and supratentorial primitive neuroectodermal tumors with cafe-au-lait spots (SNTCL). The human PMS2 gene encodes an 862 aa, 96 kDa polypeptide.
Synonyms: DNA mismatch repair gene homologue antibody, H_DJ0042M02.9 antibody, HNPCC4 antibody, PMS 2 antibody, PMS1 protein homolog 2 antibody, PMS2 postmeiotic segregation increased 2 antibody, PMS2CL antibody, PMSL2 antibody
Target Information: 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. [provided by RefSeq, Jul 2008]