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mlh1

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Official Full Name
mutL 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]
Synonyms
MLH1; mutL homolog 1; FCC2; COCA2; HNPCC; hMLH1; HNPCC2; DNA mismatch repair protein Mlh1; mutL homolog 1, colon cancer, nonpolyposis type 2; mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); COCA2, mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2); MGC5172; HNPCC, FCC2, HNPCC2; zgc:66301

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