Specificity
Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
Tag/Conjugate
Unconjugated
Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.
Antigen Description
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
ATP binding; ATPase activity; contributes_to MutSalpha complex binding; guanine/thymine mispair binding; protein binding; contributes_to protein binding; contributes_to single-stranded DNA binding;
Synonyms
MLH1; mutL homolog 1; FCC2; COCA2; HNPCC; hMLH1; HNPCC2; DNA mismatch repair protein Mlh1; mutL homolog 1, colon cancer, nonpolyposis type 2;
Citations
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Cohn, DE; Frankel, WL; et al. Improved survival with an intact DNA mismatch repair system in endometrial cancer. OBSTETRICS AND GYNECOLOGY 108:1208-1215(2006).
Ruszkiewicz, A; Bennett, G; et al. Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. PATHOLOGY 34:541-547(2002).