MLH1

From Wikipedia, the free encyclopedia

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

Identifiers

MLH1; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1

External IDs

OMIM: 120436 MGI: 101938 HomoloGene: 208

Gene ontology
Molecular Function:	• single-stranded DNA binding • protein binding • ATP binding • guanine/thymine mispair binding • MutSalpha complex binding
Cellular Component:	• condensed chromosome • synaptonemal complex • nucleus
Biological Process:	• mismatch repair • cell cycle • male meiosis chromosome segregation • meiotic recombination • DNA damage response, signal transduction resulting in induction of apoptosis • negative regulation of progression through cell cycle • negative regulation of mitotic recombination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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.

1 References
2 Further reading
3 See also
4 External links

[edit] References

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

[edit] 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.