MLH3

MutL homolog 3 (E. coli)
Identifiers
Symbols	MLH3 ; HNPCC7; MGC138372
External IDs	Template:OMIM5 Template:MGI HomoloGene: 79537
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 Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MLH3 204838 s at tn.png
File:PBB GE MLH3 214525 x at tn.png
File:PBB GE MLH3 217216 x 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 3 (E. coli), also known as MLH3, is a human gene.

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.

Further reading

• Sherrington R, Rogaev EI, Liang Y; et al. (1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature. 375 (6534): 754–60. doi:10.1038/375754a0. PMID 7596406.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lipkin SM, Wang V, Jacoby R; et al. (2000). "MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability". Nat. Genet. 24 (1): 27–35. doi:10.1038/71643. PMID 10615123.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kondo E, Horii A, Fukushige S (2001). "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2". Nucleic Acids Res. 29 (8): 1695–702. PMID 11292842.CS1 maint: Multiple names: authors list (link)
• Lipkin SM, Wang V, Stoler DL; et al. (2001). "Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers". Hum. Mutat. 17 (5): 389–96. doi:10.1002/humu.1114. PMID 11317354.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wu Y, Berends MJ, Sijmons RH; et al. (2001). "A role for MLH3 in hereditary nonpolyposis colorectal cancer". Nat. Genet. 29 (2): 137–8. doi:10.1038/ng1001-137. PMID 11586295.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Santucci-Darmanin S, Neyton S, Lespinasse F; et al. (2003). "The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination". Hum. Mol. Genet. 11 (15): 1697–706. PMID 12095912.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hienonen T, Laiho P, Salovaara R; et al. (2003). "Little evidence for involvement of MLH3 in colorectal cancer predisposition". Int. J. Cancer. 106 (2): 292–6. doi:10.1002/ijc.11218. PMID 12800209.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lenzi ML, Smith J, Snowden T; et al. (2005). "Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes". Am. J. Hum. Genet. 76 (1): 112–27. doi:10.1086/427268. PMID 15558497.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cannavo E, Marra G, Sabates-Bellver J; et al. (2006). "Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair". Cancer Res. 65 (23): 10759–66. doi:10.1158/0008-5472.CAN-05-2528. PMID 16322221.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Taylor NP, Powell MA, Gibb RK; et al. (2006). "MLH3 mutation in endometrial cancer". Cancer Res. 66 (15): 7502–8. doi:10.1158/0008-5472.CAN-06-0248. PMID 16885347.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu HX, Li Y, Jiang XD; et al. (2007). "Mutation screening of mismatch repair gene Mlh3 in familial esophageal cancer". World J. Gastroenterol. 12 (33): 5281–6. PMID 16981255.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Korhonen MK, Raevaara TE, Lohi H, Nyström M (2007). "Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC". Oncol. Rep. 17 (2): 351–4. PMID 17203173.CS1 maint: Multiple names: authors list (link)
• Erdeniz N, Nguyen M, Deschênes SM, Liskay RM (2007). "Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions". DNA Repair (Amst.). 6 (10): 1463–70. doi:10.1016/j.dnarep.2007.04.013. PMID 17567544.CS1 maint: Multiple names: authors list (link)