基因名称(Gene Name)
PMS2 PMSL2
蛋白名称
Postmeiotic Segregation Increased 2(PMS2)
免疫原
Synthesized peptide derived from human Postmeiotic Segregation Increased 2(PMS2)
特异性
This antibody detects endogenous levels of Postmeiotic Segregation Increased 2(PMS2) at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.151% sodium azide.
稀释比例
IHC-p 1:100-500, WB 1:200-1000, IF 1:100-500
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
其他名称
Mismatch repair endonuclease PMS2 (EC 3.1.-.-;DNA mismatch repair protein PMS2;PMS1 protein homolog 2)
背景
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome
功能
disease:Defects in PMS2 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome and brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.,disease:Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4) [MIM:600259]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to ear
