MUTYH
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | mutY homolog (E. coli) |
| EntrezGene | 4595 |
| PheGenI | 4595 |
| VariationViewer | 4595 |
| ClinVar | MUTYH |
| GeneCards | MUTYH |
| dbSNP | 4595 |
| Diseases | MUTYH |
| SADR | 4595 |
| HugeNav | 4595 |
| wikipedia | MUTYH |
| MUTYH | |
| gopubmed | MUTYH |
| EVS | MUTYH |
| HEFalMp | MUTYH |
| MyGene2 | MUTYH |
| 23andMe | MUTYH |
| UniProt | Q9UIF7 |
| Ensembl | ENSG00000132781 |
| OMIM | 604933 |
| # SNPs | 99 |
The human MUTYH gene encodes a (highly conserved) homolog of the E. coli mutY gene.
The enzyme encoded by the E. coli mutY gene (MIM ID 604933) is a component of a bacterial DNA mismatch repair system and works together with mutM (OGG1; MIM ID 601982) to correct A/G and A/C mismatches, which are products of oxidative DNA damage [PMID 10498741].
In humans, germline bi-allelic mutations in the MUTYH gene increase the risk of developing multiple adenomatous polyps and colorectal cancer [PMID 11818965]. These variants include:
- rs34612342, also known as Tyr165Cys
- rs36053993, also known as Gly396Asp
In 2019, 23andMe announced that they received FDA clearance to report on these two MUTYH variants in their Genetic Health Risk reports.[1]
