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MUTYHmutY homolog (E. coli) |
Known also as: MYH; CYP2C; MGC4416;
| NCBI Gene ID: | 4595 |
| NCBI Ensembl Id: | ENSG00000132781 |
| MIM Id: (from NCBI OMIM database) | 604933 |
| Species: | Homo sapiens |
| This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- COLORECTAL CANCER (#114500 )
- GASTRIC CANCER (137215 )
- COLORECTAL CANCER (#114500 )
- GASTRIC CANCER (137215 )
| Authors | Title | Journal |
| Lindahl T, Wood RD | Quality control by DNA repair. | Science Dec. 3, 1999 |
| Gu Y, Parker A, Wilson TM, Bai H, Chang DY, Lu AL | Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. | J Biol Chem March 1, 2002 |
Last modification of this entry: Oct. 6, 2010.
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