基因名:
PMS2
产品别名:
HNPCC4; MLH4; MMRCS4; PMS-2; PMS2CL; PMSL2; PMS2; PMS1 homolog 2, mismatch repair system component; PMS1 homolog 2, mismatch repair system component; mismatch repair endonuclease PMS2; DNA mismatch repair protein PMS2; PMS1 homolog 2, mismatch repair protein; PMS1 protein homolog 2; PMS2 postmeiotic segregation increased 2; 肿瘤错配修复基因PMS2;
背景信息:
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].