MLH1 Antibody – Rabbit Polyclonal

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

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; guanine/thymine mispair binding; ATPase activity; MutSalpha complex binding; ATP binding; single-stranded DNA 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