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MLH1 ( Human )

Entrez Gene 4292 entrezgene 4292
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mutL homolog 1

Alias

COCA2 | FCC2 | HNPCC | HNPCC2 | hMLH1

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].