MLH1

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Identifiers
Symbol(s)	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
250px More reference expression data
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. 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.
• 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:<89::AID-HUMU1>3.0.CO;2-H 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

• MeSH MLH1+protein,+human