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MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Symbol(s) MLH1; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1
External IDs OMIM: 120436 MGI101938 Homologene208
RNA expression pattern


More reference expression data

Human Mouse
Entrez 4292 17350
Ensembl ENSG00000076242 ENSMUSG00000032498
Uniprot P40692 Q3TG77
Refseq NM_000249 (mRNA)
NP_000240 (protein)
NM_026810 (mRNA)
NP_081086 (protein)
Location Chr 3: 37.01 - 37.07 Mb Chr 9: 111.07 - 111.12 Mb
Pubmed search [1] [2]

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), also known as MLH1, is a human gene. MLH1 is a gene commonly associated with hereditary nonpolyposis colorectal cancer.

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. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined.[1]

It can also be associated with Turcot syndrome.


Further reading

  • Paraf F, Sasseville D, Watters AK; et al. (1995). "Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome.". Hum. Pathol. 26 (4): 422–7. PMID 7705822. 
  • Kolodner RD (1996). "Mismatch repair: mechanisms and relationship to cancer susceptibility.". Trends Biochem. Sci. 20 (10): 397–401. PMID 8533151. 
  • Peltomäki P, de la Chapelle A (1997). "Mutations predisposing to hereditary nonpolyposis colorectal cancer.". Adv. Cancer Res. 71: 93–119. PMID 9111864. 
  • Papadopoulos N, Lindblom A (1997). "Molecular basis of HNPCC: mutations of MMR genes.". Hum. Mutat. 10 (2): 89–99. PMID 9259192. doi:10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H. 
  • Kauh J, Umbreit J (2004). "Colorectal cancer prevention.". Current problems in cancer. 28 (5): 240–64. PMID 15375803. 
  • Warusavitarne J, Schnitzler M (2007). "The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer.". International journal of colorectal disease. 22 (7): 739–48. PMID 17109103. doi:10.1007/s00384-006-0228-0. 
  • Niv Y (2007). "Microsatellite instability and MLH1 promoter hypermethylation in colorectal cancer.". World J. Gastroenterol. 13 (12): 1767–9. PMID 17465465. 

See also

External links