MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair. Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the Amsterdam criteria for HNPCC. hMSH6 mutations have also been linked to endometrial cancer and the development of endometrial carcinomas.
Background References
1. "GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells." Palombo F., Gallinari P., Iaccarino I., Lettieri T., Hughes M., D\'Arrigo A., Truong O., Hsuan J.J., Jiricny J. Science 268:1912-1914(1995)
2. "MSH6 missense mutations are often associated with no or low cancer susceptibility." Kariola R., Hampel H., Frankel W.L., Raevaara T.E., de la Chapelle A., Nystroem-Lahti M. Br. J. Cancer 91:1287-1292(2004)
Sequence Similarity
Belongs to the DNA mismatch repair MutS family.
Post-translational Modification
The N-terminus is blocked.; Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.