MLH3 ELISA Kit for Human

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

MLH3: Probably involved in the repair of mismatches in DNA. Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 (HNPCC7). Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Defects in MLH3 are a cause of colorectal cancer (CRC). Belongs to the DNA mismatch repair MutL/HexB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation; DNA repair, damage

Chromosomal Location of Human Ortholog: 14q24.3

Cellular Component: male germ cell nucleus; chiasma; synaptonemal complex; nucleus

Molecular Function: centromeric DNA binding; protein binding; ATPase activity; satellite DNA binding; chromatin binding; single-stranded DNA binding; ATP binding; mismatched DNA binding

Biological Process: synaptonemal complex assembly; protein localization; mismatch repair; meiotic recombination; male meiosis; female meiosis I

Disease: Colorectal Cancer, Hereditary Nonpolyposis, Type 7; Endometrial Cancer