What type of protein is MSH2?
DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2….MSH2.
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| BioGPS | More reference expression data |
What type of mutation is MSH2?
Inherited mutations in the MSH2 gene are associated with Lynch syndrome . Other names for Lynch syndrome include Hereditary Nonpolyposis Colorectal Cancer ( HNPCC ) and Muir-Torre syndrome, which refers to a subset of Lynch syndrome in which people have an increased risk of developing uncommon skin tumors.
What is the MSH6 gene?
The MSH6 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
What are the functions of the proteins encoded by MSH2 and MSH6?
The MSH2 protein joins with one of two other proteins, MSH6 or MSH3 (each produced from a different gene), to form a two-protein complex called a dimer. This complex identifies locations on the DNA where errors have been made during DNA replication.
What does MSH2 protein do?
The MSH2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
Where is the MSH6 gene located?
It is the homologue of the human “G/T binding protein,” (GTBP) also called p160 or hMSH6 (human MSH6)….
| MSH6 | ||
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| Location (UCSC) | Chr 2: 47.7 – 47.81 Mb | Chr 17: 88.28 – 88.3 Mb |
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Is MSH6 dominant or recessive?
Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance.
What does MSH6 protein do?
What is MSH6 gene mutation?
If you have a mutation in the MSH6 gene, this means you have a condition called Lynch syndrome. Lynch syndrome increases your risk for certain types of cancers, including: Colorectal (colon and rectal) cancer. Uterine (endometrial) cancer.
What is MSH6 gene?
What chromosome is PMS2?
The PMS2 (PMS1 homolog 2, mismatch repair system component) gene is located on chromosome 7. The PMS2 gene protein plays an important role in repairing DNA damage.
What chromosome is MSH6 on?
chromosome 2
In the human genome, hMSH6 is located on chromosome 2. It contains the Walker-A/B adenine nucleotide binding motif, which is the most highly conserved sequence found in all MutS homologs.
Is MSH6 a tumor suppressor?
MSH6 is also a tumor suppressor gene, although inactivation of MSH6 yields a slightly less severe phenotype than that caused by MSH2 or MLH1 mutations because in MSH6-deficient cells, one class of mismatches, insertions/deletions,apparently are repaired normally.
What is the function of the MSH6 protein?
The MSH6 protein joins with another protein called MSH2 (produced from the MSH2 gene) to form a two-protein complex called a dimer. This complex identifies locations on the DNA where errors have been made during DNA replication.
What is the function of the MSH2 gene?
MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex.
What is the difference between MSH2 and MSH6?
MSH2 can be imported into the nucleus without dimerizing to MSH6, in this case, MSH2 is probably dimerized to MSH3 to form MutSβ. MSH2 has two interacting domains with MSH6 in the MutSα heterodimer, a DNA interacting domain, and an ATPase domain. The MutSα dimer scans double stranded DNA in the nucleus, looking for mismatched bases.
What causes MSH2 and MSH6 staining defects?
In most tumors with loss of MSH2 and MSH6 staining, the defect is caused by a germline mutation in the MSH2 gene (or, rarely, in the MSH6 gene), usually in the setting of a family history of colorectal, endometrial, gastric, or other cancers (Lynch syndrome).