Target:MLH1
Fields:Platinum drug resistance;Mismatch repair;Fanconi anemia pathway;Pathways in cancer;Colorectal cancer;Endometrial cancer;Gastric cancer
Gene Name:MLH1
Protein Name:DNA mismatch repair protein Mlh1
Human Gene Id:4292
Human Swiss Prot No:P40692
Mouse Gene Id:17350
Mouse Swiss Prot No:Q9JK91
Rat Gene Id:81685
Rat Swiss Prot No:P97679
Immunogen:The antiserum was produced against synthesized peptide derived from human MLH1. AA range:441-490
Specificity:MLH1 Polyclonal Antibody detects endogenous levels of MLH1 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000;IHC 1:50-300
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:MLH1;COCA2;DNA mismatch repair protein Mlh1;MutL protein homolog 1
Observed Band(KD):85kD
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:Nucleus . Chromosome . Recruited to chromatin in a MCM9-dependent manner. .
Expression:Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.