QuickView for MLH1 (gene)

Gene Symbol:

MLH1 Homo sapiens

Full name:

mutL homolog 1

Synonyms:

COCA2, FCC2, HNPCC, HNPCC2, hMLH1, DNA mismatch repair protein Mlh1, mutL homolog 1, colon cancer, nonpolyposis type 2

Genomic Location:

Chr 3: 37009983-37067341

Description:

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degrad...

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The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  NFY_Q6 ,  RCGCANGCGY_NRF1_Q6

Cytogenetic Map:

3p22.2

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