Molecular weight (DA)
85kD
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.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Protein name
DNA mismatch repair protein Mlh1
Other name
MLH1; COCA2; DNA mismatch repair protein Mlh1; MutL protein homolog 1
Fields
>>Platinum drug resistance;>>Mismatch repair;>>Fanconi anemia pathway;>>Pathways in cancer;>>Colorectal cancer;>>Endometrial cancer;>>Gastric cancer
Human protein sequence Database
P40692
Mouse protein sequence database
Q9JK91
Rat protein sequence database
P97679
Cellular localization
Nucleus . Chromosome . Recruited to chromatin in a MCM9-dependent manner. .
Tissue expression
Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
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