PMS1

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]

别名

MLH2,PMSL1,hPMS1,HNPCC3

基因id

Chromosome:2 Start: 190648710 End: 190742355 Strand: 

药物

突变与药物

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