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MLH1

mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

On chromosome: 3p21.3
Known also as: FCC2; COCA2; HNPCC; hMLH1; HNPCC2; MGC5172;


NCBI Gene ID: 4292
NCBI Ensembl Id: ENSG00000076242
MIM Id: (from NCBI OMIM database) 120436
Species: Homo sapiens

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.


Gene sequence:
[Download sequence]

Proteins coded by this gene:
Diseases related to this gene:
References:

Authors Title Journal
Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA. Nucleic Acids Res Jan. 1, 2002
Nielsen FC, Jager AC, Lutzen A, Bundgaard JR, Rasmussen LJ Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA. Oncogene Jan. 19, 2004
Plotz G, Piiper A, Wormek M, Zeuzem S, Raedle J Analysis of the human MutLalpha.MutSalpha complex. Biochem Biophys Res Commun Jan. 17, 2006

Last modification of this entry: Oct. 6, 2010.

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