The MSH6 gene homepage
| General information |
| Gene symbol |
MSH6 |
| Gene name |
mutS homolog 6 (E. coli) |
| Chromosome |
2 |
| Chromosomal band |
p16 |
| Imprinted |
- |
| Genomic reference |
NG_007111.1 |
| Transcript reference |
NM_000179.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
7 |
| Unique public DNA variants reported |
7 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
This gene encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. [provided by RefSeq, Jul 2008]
Also known as: GTBP; HSAP; HNPCC5 |
| Date created |
May 01, 2013 |
Active transcripts
| Copyright & disclaimer |
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