基因名称：PMS1 （PMS1 homolog 1, mismatch repair system component）
别名： MLH2,PMSL1,hPMS1,HNPCC3
基因ID：5378
Chromosome(GRCh37) ：2 Start: 190648710 End: 190742355 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码一种属于dna错配修复mutl/hexb家族的蛋白质。这种蛋白被认为参与了dna错配的修复，它可以与mlh1（一种已知的dna错配修复蛋白）形成异二聚体。该基因突变可导致遗传性非息肉病性结直肠癌3型（hnpcc3）单独或与hnpcc表型相关的其他基因突变结合，也被称为lynch综合征。[由RefSeq提供，2008年7月]This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
PMS1突变与药物：
