MSH3 ist ein Gen, das durch das Symbol MSH3 kodiert wird. Im Allgemeinen auch bezeichnet als: DNA mismatch repair protein hDivergent upstream protein; DUP; Mismatch repair protein 1; MRP1; DUC1; DUG. MSH3 hat eine Masse von 127.41kDa, eine Aminosäurelänge von 1137, und ist an folgenden Krankheiten beteiligt: Endometrial cancer; Familial adenomatous polyposis 4.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.
Entrez Zusammenfassung
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer.
Rolle bei Krankheiten
Endometrial cancer: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids.
Familial adenomatous polyposis 4: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive.
Sequenzähnlichkeiten
Belongs to the DNA mismatch repair MutS family. MSH3 subfamily.
