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Gene: MLH1 (mutL homolog 1) Homo sapiens
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Symbol: MLH1
Name: mutL homolog 1
Description: Exhibits chromatin binding activity and enzyme binding activity. Contributes to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in mismatch repair. Localizes to nucleoplasm. Implicated in Lynch syndrome; Muir-Torre syndrome; colorectal cancer; hereditary nonpolyposis colorectal cancer type 2; and sporadic breast cancer. Biomarker of cervix uteri carcinoma in situ; renal cell carcinoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COCA2; DNA mismatch repair protein Mlh1; FCC2; hMLH1; HNPCC; HNPCC2; MGC5172; mismatch repair protein; mutL homolog 1, colon cancer, nonpolyposis type 2; mutL protein homolog 1
Orthologs:
Mus musculus (house mouse) : Mlh1 (mutL homolog 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mlh1 (mutL homolog 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mlh1 (mutL homolog 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MLH1 (mutL homolog 1)
Canis lupus familiaris (dog) : MLH1 (mutL homolog 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mlh1 (mutL homolog 1)
Sus scrofa (pig) : MLH1 (mutL homolog 1)
Chlorocebus sabaeus (African green monkey) : MLH1 (mutL homolog 1)
Heterocephalus glaber (naked mole-rat) : Mlh1 (mutL homolog 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl336,993,350 - 37,050,846 (+)EnsemblGRCh38hg38GRCh38
GRCh38 Ensembl336,993,332 - 37,050,918 (+)EnsemblGRCh38hg38GRCh38
GRCh38336,993,350 - 37,050,846 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37337,034,841 - 37,092,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36337,009,983 - 37,067,341 (+)NCBINCBI36hg18NCBI36
Build 34337,009,982 - 37,067,341NCBI
Celera336,977,606 - 37,035,102 (+)NCBI
Cytogenetic Map3p22.2NCBI
HuRef336,975,521 - 37,033,106 (+)NCBIHuRef
CHM1_1336,986,471 - 37,043,967 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model