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MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
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| Identifiers | ||
| Symbol(s) | MLH1; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1 | |
| External IDs | OMIM: 120436 MGI: 101938 HomoloGene: 208 | |
| RNA expression pattern | ||
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| Orthologs | ||
| 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. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles coli), also known as MLH1, is a human gene. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance MLH1 is a gene commonly associated with hereditary nonpolyposis colorectal cancer. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Hereditary nonpolyposis colorectal cancer (HNPCC also known as Lynch syndrome, is characterised by a risk of Colorectal cancer and other cancers of the endometrium
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. Turcot syndrome is the association between Familial adenomatous polyposis or Hereditary nonpolyposis colorectal cancer and Brain tumors like Medulloblastoma
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References
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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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
DNA mismatch repair is a system for recognising and repairing erroneous insertion deletion and mis-incorporation of bases that can arise during DNA replication and recombination Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and booksDapyx Software network: MP3 Explorer | Ebook Manager | Zenithic