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Aliases for MLH1 Gene

Aliases for MLH1 Gene

  • MutL Homolog 1 2 3
  • COCA2 3 4 6
  • HNPCC2 3 6
  • MutL (E. Coli) Homolog 1 (Colon Cancer, Nonpolyposis Type 2) 2
  • MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 (E. Coli) 2
  • MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 3
  • DNA Mismatch Repair Protein Mlh1 3
  • MutL Protein Homolog 1 4
  • HNPCC 3
  • HMLH1 3
  • FCC2 3

External Ids for MLH1 Gene

Previous HGNC Symbols for MLH1 Gene

  • COCA2

Previous GeneCards Identifiers for MLH1 Gene

  • GC03P036337
  • GC03P036848
  • GC03P036995
  • GC03P037009
  • GC03P036976
  • GC03P037034

Summaries for MLH1 Gene

Entrez Gene Summary for MLH1 Gene

  • 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

GeneCards Summary for MLH1 Gene

MLH1 (MutL Homolog 1) is a Protein Coding gene. Diseases associated with MLH1 include colorectal cancer, hereditary nonpolyposis, type 2 and lynch syndrome. Among its related pathways are Pathways in cancer and Cell Cycle / Checkpoint Control. GO annotations related to this gene include ATPase activity and MutSalpha complex binding.

UniProtKB/Swiss-Prot for MLH1 Gene

  • Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.

Gene Wiki entry for MLH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLH1 Gene

Genomics for MLH1 Gene

Regulatory Elements for MLH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MLH1 Gene

Start:
36,993,332 bp from pter
End:
37,050,918 bp from pter
Size:
57,587 bases
Orientation:
Plus strand

Genomic View for MLH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLH1 Gene

Proteins for MLH1 Gene

  • Protein details for MLH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40692-MLH1_HUMAN
    Recommended name:
    DNA mismatch repair protein Mlh1
    Protein Accession:
    P40692
    Secondary Accessions:
    • B4DI13
    • B4DQ11
    • E9PCU2

    Protein attributes for MLH1 Gene

    Size:
    756 amino acids
    Molecular mass:
    84601 Da
    Quaternary structure:
    • Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1 and MTMR15/FAN1.

    Three dimensional structures from OCA and Proteopedia for MLH1 Gene

    Alternative splice isoforms for MLH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLH1 Gene

Proteomics data for MLH1 Gene at MOPED

Post-translational modifications for MLH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MLH1 (MLH1)

No data available for DME Specific Peptides for MLH1 Gene

Domains for MLH1 Gene

Graphical View of Domain Structure for InterPro Entry

P40692

UniProtKB/Swiss-Prot:

MLH1_HUMAN :
  • P40692
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with MLH1: view

No data available for Gene Families for MLH1 Gene

Function for MLH1 Gene

Molecular function for MLH1 Gene

GENATLAS Biochemistry: yeast mutator gene homolog (bacterial mutL),with several spliced isoforms,involved in mismatch repair in non-small cell lung cancer (see TSG3B),deleted in sporadic colorectal cancer or mutated with hypermethylation of the promoter region,in breast cancer and in sporadic endometrial cancer,interacting with NF1 (predisposition to early hematological malignancy) and with PMS2
UniProtKB/Swiss-Prot Function: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.

Gene Ontology (GO) - Molecular Function for MLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 contributes_to single-stranded DNA binding IDA 11809883
GO:0005515 contributes_to protein binding IPI 16403449
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA --
GO:0030983 mismatched DNA binding --
genes like me logo Genes that share ontologies with MLH1: view
genes like me logo Genes that share phenotypes with MLH1: view

Animal Models for MLH1 Gene

MGI Knock Outs for MLH1:

Animal Model Products

CRISPR Products

miRNA for MLH1 Gene

miRTarBase miRNAs that target MLH1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MLH1 Gene

Localization for MLH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLH1 Gene COMPARTMENTS Subcellular localization image for MLH1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome --
GO:0000794 condensed nuclear chromosome --
GO:0000795 synaptonemal complex IBA --
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IC 11809883
genes like me logo Genes that share ontologies with MLH1: view

Pathways for MLH1 Gene

genes like me logo Genes that share pathways with MLH1: view

Pathways by source for MLH1 Gene

2 Cell Signaling Technology pathways for MLH1 Gene
3 BioSystems pathways for MLH1 Gene
2 Reactome pathways for MLH1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for MLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening IEA --
GO:0000712 resolution of meiotic recombination intermediates IEA --
GO:0002204 somatic recombination of immunoglobulin genes involved in immune response --
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with MLH1: view

Compounds for MLH1 Gene

(65) Novoseek inferred chemical compound relationships for MLH1 Gene

Compound -log(P) Hits PubMed IDs
mononucleotide 85.1 18
crcs 84.7 28
mhs-2 73.8 2
o6-methylguanine 63.7 15
5-aza-2deoxycytidine 56.2 26
genes like me logo Genes that share compounds with MLH1: view

Transcripts for MLH1 Gene

Unigene Clusters for MLH1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLH1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - -
SP2: - - - - -
SP3: - - - - -
SP4: -
SP5: - - - -
SP6: -
SP7:
SP8:
SP9: -

ExUns: 20 ^ 21a · 21b ^ 22a · 22b
SP1:
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:

Relevant External Links for MLH1 Gene

GeneLoc Exon Structure for
MLH1
ECgene alternative splicing isoforms for
MLH1

Expression for MLH1 Gene

mRNA expression in normal human tissues for MLH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLH1 Gene

SOURCE GeneReport for Unigene cluster for MLH1 Gene Hs.195364

mRNA Expression by UniProt/SwissProt for MLH1 Gene

P40692-MLH1_HUMAN
Tissue specificity: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart
genes like me logo Genes that share expressions with MLH1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MLH1 Gene

Orthologs for MLH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MLH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLH1 35
  • 99.74 (n)
  • 99.6 (a)
MLH1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLH1 35
  • 89.24 (n)
  • 91.27 (a)
MLH1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLH1 35
  • 90.86 (n)
  • 93.38 (a)
MLH1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlh1 35
  • 87.13 (n)
  • 88.89 (a)
Mlh1 16
Mlh1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLH1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLH1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlh1 35
  • 85.43 (n)
  • 87.28 (a)
chicken
(Gallus gallus)
Aves MLH1 35
  • 73.47 (n)
  • 80.11 (a)
MLH1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLH1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlh1 35
  • 71.14 (n)
  • 77.18 (a)
Str.16593 35
zebrafish
(Danio rerio)
Actinopterygii mlh1 35
  • 67.08 (n)
  • 71.82 (a)
mlh1 36
  • 71 (a)
OneToOne
zgc66301 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012192 35
  • 55.09 (n)
  • 52.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mlh1 35
  • 56.06 (n)
  • 52.66 (a)
Mlh1 36
  • 51 (a)
OneToOne
Mlh1 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea mlh-1 36
  • 34 (a)
OneToOne
mlh-1 37
  • 32 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL199C 35
  • 47.46 (n)
  • 40.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLH1 35
  • 47.89 (n)
  • 40.5 (a)
MLH1 36
  • 38 (a)
OneToOne
MLH1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09955g 35
  • 49.33 (n)
  • 41.83 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MLH1 35
  • 52.3 (n)
  • 46.11 (a)
rice
(Oryza sativa)
Liliopsida Os.10900 35
Os01g0958900 35
  • 54.11 (n)
  • 47.31 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08309 35
  • 51.47 (n)
  • 49.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mlh1 35
  • 49.09 (n)
  • 42.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for MLH1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MLH1 Gene

ENSEMBL:
Gene Tree for MLH1 (if available)
TreeFam:
Gene Tree for MLH1 (if available)

Paralogs for MLH1 Gene

genes like me logo Genes that share paralogs with MLH1: view

No data available for Paralogs for MLH1 Gene

Variants for MLH1 Gene

Sequence variations from dbSNP and Humsavar for MLH1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs748766 Benign 37,041,383(-) TGTGA(A/G)ATGAA intron-variant
rs997588 -- 37,033,651(+) TATAT(A/G)TATAT intron-variant
rs1540354 Benign 37,002,998(-) AATCT(A/T)CCTGT intron-variant
rs1558528 Benign 37,015,499(+) TACAA(A/C)CACAT intron-variant
rs1799977 Benign, - 37,012,077(+) GCTCC(A/C/G)TCTTT reference, missense, utr-variant-5-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for MLH1 Gene

Variant ID Type Subtype PubMed ID
nsv834662 CNV Loss 17160897
nsv834663 CNV Loss 17160897
esv1133148 CNV Deletion 17803354

Relevant External Links for MLH1 Gene

HapMap Linkage Disequilibrium report
MLH1
Human Gene Mutation Database (HGMD)
MLH1
Locus Specific Mutation Databases (LSDB)
MLH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLH1 Gene

Disorders for MLH1 Gene

(3) OMIM Diseases for MLH1 Gene (120436)

UniProtKB/Swiss-Prot

MLH1_HUMAN
  • Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:10323887, ECO:0000269 PubMed:10375096, ECO:0000269 PubMed:10386556, ECO:0000269 PubMed:10413423, ECO:0000269 PubMed:10480359, ECO:0000269 PubMed:10598809, ECO:0000269 PubMed:10627141, ECO:0000269 PubMed:10660333, ECO:0000269 PubMed:10671064, ECO:0000269 PubMed:10713887, ECO:0000269 PubMed:10777691, ECO:0000269 PubMed:10882759, ECO:0000269 PubMed:11139242, ECO:0000269 PubMed:11726306, ECO:0000269 PubMed:11748856, ECO:0000269 PubMed:11754112, ECO:0000269 PubMed:11839723, ECO:0000269 PubMed:11870161, ECO:0000269 PubMed:12095971, ECO:0000269 PubMed:12132870, ECO:0000269 PubMed:12200596, ECO:0000269 PubMed:12362047, ECO:0000269 PubMed:12373605, ECO:0000269 PubMed:12655562, ECO:0000269 PubMed:12658575, ECO:0000269 PubMed:14635101, ECO:0000269 PubMed:14961575, ECO:0000269 PubMed:15064764, ECO:0000269 PubMed:15139004, ECO:0000269 PubMed:15365995, ECO:0000269 PubMed:15365996, ECO:0000269 PubMed:16083711, ECO:0000269 PubMed:16451135, ECO:0000269 PubMed:17301300, ECO:0000269 PubMed:17510385, ECO:0000269 PubMed:18561205, ECO:0000269 PubMed:7757073, ECO:0000269 PubMed:8566964, ECO:0000269 PubMed:8571956, ECO:0000269 PubMed:8797773, ECO:0000269 PubMed:8872463, ECO:0000269 PubMed:8993976, ECO:0000269 PubMed:9048925, ECO:0000269 PubMed:9067757, ECO:0000269 PubMed:9218993, ECO:0000269 PubMed:9272156, ECO:0000269 PubMed:9298827, ECO:0000269 PubMed:9311737, ECO:0000269 PubMed:9326924, ECO:0000269 PubMed:9399661, ECO:0000269 PubMed:9559627, ECO:0000269 PubMed:9718327, ECO:0000269 PubMed:9833759, ECO:0000269 PubMed:9927034, ECO:0000269 Ref.5}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:17440981, ECO:0000269 PubMed:7661930}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muir-Torre syndrome (MRTES) [MIM:158320]: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. {ECO:0000269 PubMed:8751876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast.
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=Some epigenetic changes can be transmitted unchanged through the germline (termed epigenetic inheritance). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrates that an epimutation can phenocopy a genetic disease.

(95) Novoseek inferred disease relationships for MLH1 Gene

Disease -log(P) Hits PubMed IDs
microsatellite instability 98.1 193
lynch syndrome 95.2 109
colorectal cancer 94.1 335
hereditary nonpolyposis colon cancer 90.1 27
germ-line mutation 85.5 65

Relevant External Links for MLH1

GeneTests
MLH1
GeneReviews
MLH1
Genetic Association Database (GAD)
MLH1
Human Genome Epidemiology (HuGE) Navigator
MLH1
genes like me logo Genes that share disorders with MLH1: view

Publications for MLH1 Gene

  1. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. (PMID: 8145827) Bronner C.E. … Liskay R.M. (Nature 1994) 3 4 23 48
  2. Missense mutations in hMLH1 associated with colorectal cancer. (PMID: 10598809) Liu T. … Lindblom A. (Hum. Genet. 1999) 3 4 23 48
  3. 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. (PMID: 14961575) Cederquist K. … Groenberg H. (Int. J. Cancer 2004) 3 4 23 48
  4. Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome. (PMID: 12414623) Sun X. … Shen B. (Cancer Res. 2002) 3 4 23
  5. Silencing-specific methylation and single nucleotide polymorphism of hMLH1 promoter in gastric carcinomas. (PMID: 12508345) Deng D.J. … Powell S.M. (World J. Gastroenterol. 2003) 3 23 48

Products for MLH1 Gene

  • Addgene plasmids for MLH1

Sources for MLH1 Gene

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