基因名称(Gene Name)
MLH1 COCA2
蛋白名称
DNA mismatch repair protein Mlh1 (MutL protein homolog 1)
免疫原
Synthesized peptide derived from human MutL Protein Homolog 1(MLH1)
特异性
This antibody detects endogenous levels of human MutL Protein Homolog 1(MLH1). Heat-induced epitope retrieval (HIER) Citrate buffer of pH6.0 was highly recommended as antigen repair method in paraffin
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Mouse, Monoclonal/IgG1, Kappa
稀释比例
IHC-p 1:100-500，WB 1:500-2000，IF 1:500-200
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
背景
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009],
功能
disease:Defects in MLH1 are a cause of Muir-Torre syndrome (MTS) [MIM:158320]. MTS is a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.,disease:Defects in MLH1 are a cause of susceptibility to endometrial cancer [MIM:608089].,disease:Defects in MLH1 are a cause of Turcot syndrome [MIM:276300]; also called mismatch repair cancer syndrome (MMRCS). Turcot syndrome 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 MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]. 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 cl
