MLH1

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), also known as mlh1, is a human is_associated_with::gene located on Chromosome 3. It is a is_associated_with::gene commonly associated with is_associated_with::hereditary nonpolyposis colorectal cancer.

Function
This gene was identified as a locus frequently mutated in is_associated_with::hereditary nonpolyposis colon cancer (HNPCC). It is a human is_associated_with::homolog of the E. coli DNA mismatch repair gene, mutL, which mediates protein-protein interactions during mismatch recognition, strand discrimination, and strand removal. Defects in MLH1 are associated with the is_associated_with::microsatellite instability (MSI) observed in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined.

Clinical significance
It can also be associated with is_associated_with::Turcot syndrome.

Interactions
MLH1 has been shown to interact with:


 * is_associated_with::Bloom syndrome protein
 * is_associated_with::Exonuclease 1,
 * is_associated_with::MBD4,
 * is_associated_with::MSH4,
 * is_associated_with::Myc, and
 * is_associated_with::PMS2.