Reactive species
Human;Mouse;Rat
Antibody type
Polyclonal Antibody
Protein name
DNA mismatch repair protein Mlh1
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.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Other name
MLH1; COCA2; DNA mismatch repair protein Mlh1; MutL protein homolog 1
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