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MLH1 a protein involved in the repair of mismatches in DNA. Binds PMS2 or MLH1 and MLH3. 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. Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2; Turcot syndrome, an autosomal dominant disorder characterized by malignant tumors of the brain; Muir-Torre syndrome (MTS), a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy; lobular carcinoma in situ; endometrial cancer; and non-polyposis colorectal cancer. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; DNA repair, damage; Tumor suppressor
Chromosomal Location of Human Ortholog: 3p22.2
Cellular Component: chiasma; membrane; MutLalpha complex; nucleoplasm; nucleus; synaptonemal complex
Molecular Function: ATPase activity; MutSalpha complex binding; protein binding; single-stranded DNA binding
Biological Process: mismatch repair; somatic hypermutation of immunoglobulin genes
Disease: Colorectal Cancer, Hereditary Nonpolyposis, Type 2; Mismatch Repair Cancer Syndrome; Muir-torre Syndrome
Reference #:  P40692 (UniProtKB)
Alt. Names/Synonyms: COCA2; DNA mismatch repair protein Mlh1; FCC2; hMLH1; HNPCC; HNPCC2; MGC5172; MLH1; mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); MutL protein homolog 1
Gene Symbols: MLH1
Molecular weight: 84,601 Da
Basal Isoelectric point: 5.51  Predict pI for various phosphorylation states
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