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- Table of Contents
Facts about DNA mismatch repair protein Mlh1.
Meeting of this MutL-MutS- heteroduplex ternary complex in existence of RFC and PCNA is enough to trigger endonuclease activity of PMS2. It introduces single-strand breaks close to the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch.
Human | |
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Gene Name: | MLH1 |
Uniprot: | P40692 |
Entrez: | 4292 |
Belongs to: |
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DNA mismatch repair MutL/HexB family |
COCA2FCC2; DNA mismatch repair protein Mlh1; hMLH1; HNPCC; HNPCC2MGC5172; mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2); mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); MutL protein homolog 1
Mass (kDA):
84.601 kDA
Human | |
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Location: | 3p22.2 |
Sequence: | 3; NC_000003.12 (36993350..37050846) |
Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
Nucleus. Chromosome. Recruited to chromatin in a MCM9-dependent manner.
PMID: 8145827 by Bronner C.E., et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
PMID: 8128251 by Papadopoulos N., et al. Mutation of a mutL homolog in hereditary colon cancer.