DNA Mismatch Repair Protein MLH1

Alternative Names

  • MLH1
  • MutL, E. coli, Homolog, 1
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OMIM Number

120436

NCBI Gene ID

4292

Uniprot ID

P40692

Length

57,497 bases

No. of Exons

21

No. of isoforms

3

Protein Name

DNA mismatch repair protein Mlh1

Molecular Mass

84601 Da

Amino Acid Count

756

Genomic Location

chr3:36,993,350-37,050,846

Gene Map Locus
3p22.2

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 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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000249.4:c.655A>GLebanonchr3:37012077BenignUncertain SignificanceBreast CancerNG_007109.2:g.23728A>G; NM_000249.4:c.655A>G; NP_000240.1:p.Ile219Val179997736557
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