Gene Symbol | MSH3 |
Entrez Gene ID | 4437 |
Full Name | mutS homolog 3 |
Synonyms | DUP,FAP4,MRP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Endometrial carcinoma, somatic, 608089 (3); Familial adenomatous polyposis 4, 617100 (3) |