MLH1 Antibody – Mouse

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). [provided by RefSeq, Aug 2017]

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.

Protein type: DNA repair, damage; Tumor suppressor

Chromosomal Location of Human Ortholog: 3p21.3

Cellular Component: male germ cell nucleus; nucleoplasm; MutLalpha complex; chiasma; membrane; synaptonemal complex; nucleus

Molecular Function: protein binding; ATPase activity; guanine/thymine mispair binding; MutSalpha complex binding; single-stranded DNA binding; ATP binding

Biological Process: oogenesis; mismatch repair; somatic hypermutation of immunoglobulin genes; negative regulation of mitotic recombination; isotype switching; spindle midzone assembly involved in meiosis; DNA repair; double-strand break repair via nonhomologous end joining; poly(A) tail shortening; meiotic metaphase I plate congression; DNA damage response, signal transduction resulting in induction of apoptosis; synapsis; male meiosis chromosome segregation; resolution of meiotic joint molecules as recombinants; spermatogenesis

Disease: Muir-torre Syndrome; Mismatch Repair Cancer Syndrome; Colorectal Cancer, Hereditary Nonpolyposis, Type 2