MLH1

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MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Identifiers
Symbols MLH1 ; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1
External IDs OMIM: 120436 MGI101938 HomoloGene208
RNA expression pattern
File:PBB GE MLH1 202520 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 4292
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 17350

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000076242
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000032498

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P40692
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3TG77

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000249 (mRNA)
NP_000240 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_026810 (mRNA)
NP_081086 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 3: 37.01 - 37.07 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 9: 111.07 -  111.12 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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.[1]

It can also be associated with Turcot syndrome.

References

  1. "Entrez Gene: MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)".

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. 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

External links


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