Target：MLH1

Fields：Platinum drug resistance;Mismatch repair;Fanconi anemia pathway;Pathways in cancer;Colorectal cancer;Endometrial cancer;Gastric cancer

Gene Name：MLH1 COCA2

Protein Name：DNA mismatch repair protein Mlh1 (MutL protein homolog 1)

Human Gene Id：4292

Human Swiss Prot No：P40692

Immunogen：Synthesized peptide derived from human MutL Protein Homolog 1(MLH1) AA range: 400-500

Specificity：This antibody detects endogenous levels of MLH1 protein.

Formulation：PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

Source：Mouse, Monoclonal/IgG1, kappa

Dilution：IHC 1:50-100. ELISA 1:500-5000

Purification：The antibody was affinity-purified from ascites by affinity-chromatography using specific immunogen.

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Molecular Weight(Da)：84kD

Observed Band(KD)：84kD

Background： 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],

Function：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

Subcellular Location：Nuclear

Expression：Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.