Entrez Gene ID | 4255 |
---|---|
Official Gene Symbol | MGMT (GeneCards) |
Full name | O-6-methylguanine-DNA methyltransferase |
Location | 10q26.3 |
Other ids | Vega : OTTHUMG00000019261 MIM : 156569 HGNC : HGNC:7059 Ensembl : ENSG00000170430 |
Other names | None |
Summary | Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
14049 | 4255 | MGMT | 10 | 131524858 | 131524858 | Asymptomatic | HiSeq X Ten |
14336 | 4255 | MGMT | 10 | 131445290 | 131445290 | Asymptomatic | HiSeq X Ten |
14505 | 4255 | MGMT | 10 | 131280788 | 131280788 | Asymptomatic | HiSeq X Ten |
14786 | 4255 | MGMT | 10 | 131530472 | 131530472 | Cockayne syndrome | HiSeq X Ten |
27012 | 4255 | MGMT | 10 | 131423218 | 131423218 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |