MLH1

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Identifiers
Symbols	MLH1 ; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 208
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MLH1 202520 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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.

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H. PMID 9259192.
• 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. doi:10.1007/s00384-006-0228-0. PMID 17109103.
• Niv Y (2007). "Microsatellite instability and MLH1 promoter hypermethylation in colorectal cancer". World J. Gastroenterol. 13 (12): 1767–9. PMID 17465465.

See also

• Mismatch_repair#MutH

External links

• MLH1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)