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MutL Homolog 1 (MLH1)

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COCA2; FCC2; HNPCC; HNPCC2; hMLH1; DNA mismatch repair protein Mlh1

MutL Homolog 1 (MLH1)
CCC J742
HGNC 7127
MGI 101938
PubMed 18712731
RGD 620937
UniProt P40692
Wiki MLH1
MLH1 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. The level of expression varied among different samples. All isoforms were found in 43 to 100% of the mononuclear blood cell samples, as well as in other tissues. The authors cautioned that knowledge of existence of multiple alternative splicing events not caused by genomic DNA changes is important for the evaluation of the results of molecular diagnostic tests based on RNA analysis.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ742Hu01 Recombinant MutL Homolog 1 (MLH1) Positive Control; Immunogen; SDS-PAGE; WB.
RPJ742Hu02 Recombinant MutL Homolog 1 (MLH1) Positive Control; Immunogen; SDS-PAGE; WB.
RPJ742Hu03 Recombinant MutL Homolog 1 (MLH1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAJ742Hu21 Monoclonal Antibody to MutL Homolog 1 (MLH1) WB; IHC; ICC; IP.
PAJ742Hu01 Polyclonal Antibody to MutL Homolog 1 (MLH1) WB; IHC; ICC; IP.
PAJ742Hu03 Polyclonal Antibody to MutL Homolog 1 (MLH1) WB; IHC; ICC; IP.
PAJ742Hu02 Polyclonal Antibody to MutL Homolog 1 (MLH1) WB; IHC; ICC; IP.
Assay Kits SEJ742Hu ELISA Kit for MutL Homolog 1 (MLH1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutL Homolog 1 (MLH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutL Homolog 1 (MLH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutL Homolog 1 (MLH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutL Homolog 1 (MLH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutL Homolog 1 (MLH1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutL Homolog 1 (MLH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutL Homolog 1 (MLH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutL Homolog 1 (MLH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutL Homolog 1 (MLH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutL Homolog 1 (MLH1) ELISA Kit Customized Service Offer
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  36. "Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes."Genes Chromosomes Cancer 19:135-142(1997) [PubMed] [Europe PMC] [Abstract]
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  38. "Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue."Hum. Genet. 100:362-364(1997) [PubMed] [Europe PMC] [Abstract]
  39. "Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system."Hum. Mutat. 9:164-171(1997) [PubMed] [Europe PMC] [Abstract]
  40. "Molecular basis of HNPCC: mutations of MMR genes."Hum. Mutat. 10:89-99(1997) [PubMed] [Europe PMC] [Abstract]
  41. "Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes."Hum. Mutat. 10:241-244(1997) [PubMed] [Europe PMC] [Abstract]
  42. "Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families."Int. J. Cancer 73:831-836(1997) [PubMed] [Europe PMC] [Abstract]
  43. "Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer."J. Med. Genet. 34:39-42(1997) [PubMed] [Europe PMC] [Abstract]
  44. "A human compound heterozygote for two MLH1 missense mutations."Nat. Genet. 17:135-136(1997) [PubMed] [Europe PMC] [Abstract]
  45. "Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls."Am. J. Hum. Genet. 63:749-759(1998) [PubMed] [Europe PMC] [Abstract]
  46. "DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer."Clin. Genet. 53:131-135(1998) [PubMed] [Europe PMC] [Abstract]
  47. "Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer."Dis. Colon Rectum 41:434-440(1998) [PubMed] [Europe PMC] [Abstract]
  48. "A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans."Hum. Hered. 48:87-91(1998) [PubMed] [Europe PMC] [Abstract]
  49. "Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability."Hum. Mutat. 12:73-73(1998) [PubMed] [Europe PMC] [Abstract]
  50. "hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds."Hum. Mutat. 12:216-217(1998) [PubMed] [Europe PMC] [Abstract]
  51. "Hereditary nonpolyposis colorectal cancer: identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria."Hum. Mutat. 12:433-433(1998) [PubMed] [Europe PMC] [Abstract]
  52. "Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer."Int. J. Cancer 78:680-684(1998) [PubMed] [Europe PMC] [Abstract]
  53. "Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer."Cancer 85:2512-2518(1999) [PubMed] [Europe PMC] [Abstract]
  54. "Neurofibromatosis and early onset of cancers in hMLH1-deficient children."Cancer Res. 59:294-297(1999) [PubMed] [Europe PMC] [Abstract]
  55. "Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2."Eur. J. Hum. Genet. 7:778-782(1999) [PubMed] [Europe PMC] [Abstract]
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  57. "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."Hum. Genet. 105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
  58. "Missense mutations in hMLH1 associated with colorectal cancer."Hum. Genet. 105:437-441(1999) [PubMed] [Europe PMC] [Abstract]
  59. "Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer."JAMA 281:2316-2320(1999) [PubMed] [Europe PMC] [Abstract]
  60. "Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer."J. Natl. Cancer Inst. 91:1221-1226(1999) [PubMed] [Europe PMC] [Abstract]
  61. "Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds."Biochem. Biophys. Res. Commun. 271:120-129(2000) [PubMed] [Europe PMC] [Abstract]
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  63. "Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients."J. Med. Genet. 37:E7-E7(2000) [PubMed] [Europe PMC] [Abstract]
  64. ErratumJ. Med. Genet. 40:472-472(2003)
  65. "hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer."Cancer Detect. Prev. 25:503-510(2001) [PubMed] [Europe PMC] [Abstract]
  66. "Contribution of germline MLH1 and MSH2 mutations to lobular carcinoma in situ of the breast."Cancer Lett. 167:171-174(2001) [PubMed] [Europe PMC] [Abstract]
  67. "Extensive somatic microsatellite mutations in normal human tissue."Cancer Res. 61:4541-4544(2001) [PubMed] [Europe PMC] [Abstract]
  68. "Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?"Eur. J. Med. Res. 6:473-482(2001) [PubMed] [Europe PMC] [Abstract]
  69. "Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae."Hum. Mol. Genet. 10:1889-1900(2001) [PubMed] [Europe PMC] [Abstract]
  70. "Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes."Hum. Mutat. 17:52-60(2001) [PubMed] [Europe PMC] [Abstract]
  71. "Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain."Hum. Mutat. 18:549-549(2001) [PubMed] [Europe PMC] [Abstract]
  72. "hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer."Ann. Surg. Oncol. 9:555-561(2002) [PubMed] [Europe PMC] [Abstract]
  73. "Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach."Br. J. Cancer 87:892-897(2002) [PubMed] [Europe PMC] [Abstract]
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  76. "Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing."Gut 50:405-412(2002) [PubMed] [Europe PMC] [Abstract]
  77. "Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer."Genes Chromosomes Cancer 33:160-167(2002) [PubMed] [Europe PMC] [Abstract]
  78. "Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer."Hum. Mutat. 19:82-82(2002) [PubMed] [Europe PMC] [Abstract]
  79. "Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer."J. Cancer Res. Clin. Oncol. 128:403-411(2002) [PubMed] [Europe PMC] [Abstract]
  80. "Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression."J. Clin. Oncol. 20:1203-1208(2002) [PubMed] [Europe PMC] [Abstract]
  81. "Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States." J. Med. Genet. 39:E65-E65(2002) [PubMed] [Europe PMC] [Abstract]
  82. "Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene." Am. J. Hum. Genet. 72:1088-1100(2003) [PubMed] [Europe PMC] [Abstract]
  83. "Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases."Ann. Oncol. 14:1530-1536(2003) [PubMed] [Europe PMC] [Abstract]
  84. "Identification of six novel MSH2 and MLH1 germline mutations in HNPCC."Hum. Mutat. 21:445-446(2003) [PubMed] [Europe PMC] [Abstract]
  85. "Genetic analysis of familial colorectal cancer in Israeli Arabs."Hum. Mutat. 21:446-447(2003) [PubMed] [Europe PMC] [Abstract]
  86. "Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA."Hum. Mutat. 22:428-433(2003) [PubMed] [Europe PMC] [Abstract]
  87. "HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1."Genes Chromosomes Cancer 40:261-265(2004) [PubMed] [Europe PMC] [Abstract]
  88. "Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families."Hum. Mutat. 24:351-351(2004) [PubMed] [Europe PMC] [Abstract]
  89. ErratumHum. Mutat. 25:224-224(2005)
  90. "Ten novel MSH2 and MLH1 germline mutations in families with HNPCC."Hum. Mutat. 24:351-352(2004) [PubMed] [Europe PMC] [Abstract]
  91. "Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden."Int. J. Cancer 109:370-376(2004) [PubMed] [Europe PMC] [Abstract]
  92. ErratumInt. J. Cancer 115:1011-1011(2005)
  93. "Germline epimutation of MLH1 in individuals with multiple cancers."Nat. Genet. 36:497-501(2004) [PubMed] [Europe PMC] [Abstract]
  94. "The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer."Nat. Genet. 36:694-699(2004) [PubMed] [Europe PMC] [Abstract]
  95. "Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1."Gastroenterology 129:537-549(2005) [PubMed] [Europe PMC] [Abstract]
  96. "Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)." Clin. Genet. 69:40-47(2006) [PubMed] [Europe PMC] [Abstract]
  97. "Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies."Cancer 109:2349-2356(2007) [PubMed] [Europe PMC] [Abstract]
  98. "Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays."Cancer Res. 67:4595-4604(2007) [PubMed] [Europe PMC] [Abstract]
  99. "Inheritance of a cancer-associated MLH1 germ-line epimutation."N. Engl. J. Med. 356:697-705(2007) [PubMed] [Europe PMC] [Abstract]
  100. "Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer."Hum. Mutat. 29:367-374(2008) [PubMed] [Europe PMC] [Abstract]
  101. "A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects."Hum. Mutat. 29:1412-1424(2008) [PubMed] [Europe PMC] [Abstract]