Gene Symbol | MSH2 |
Entrez Gene ID | 4436 |
Full Name | mutS homolog 2 |
Synonyms | COCA1,FCC1,HNPCC,HNPCC1,LCFS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3); Muir-Torre syndrome, 158320 (3); Mismatch repair cancer syndrome, 276300 (3) |