| APEX:
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules
by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases
that remove specific abnormal bases. AP sites are pre-mutagenic lesions
that can prevent normal DNA replication so the cell contains systems
to identify and repair such sites. Class II AP endonucleases cleave
the phosphodiester backbone 5' to the AP site. This gene encodes the
major AP endonuclease in human cells. Splice variants have been found
for this gene; all encode the same protein. |
| XRCC1:
the protein encoded by this gene is involved in the efficient repair
of DNA single-strand breaks formed by exposure to ionizing radiation
and alkylating agents. This protein interacts with DNA ligase III,
polymerase beta and poly (ADP-ribose) polymerase to participate in
the base excision repair pathway. It may play a role in DNA processing
during meiogenesis and recombination in germ cells. A rare microsatellite
polymorphism in this gene is associated with cancer in patients of
varying radiosensitivity. |
| ATM:
ataxia telangiectasia mutated (includes complementation groups A,
C and D); protein kinase, similar to phosphatidylinositol-3' kinases.
|
| WRN:
member of the RecQ family of DNA helicases; may catalyze DNA unwinding |
| CDKN1B:
Inhibitor of G1-specific CDK-cyclin complexes 1B; mediates TGF beta-induced
G1 phase arrest; synonyms: p27, kip1 |
| MGMT:
O6-methylguanine-DNA methyltransferase;
protects against mutagenic effects of O6-methylguanine DNA lesions |
| POLG:
subunit of DNA polymerase gamma; component of DNA polymerase gamma
complex, required for mitochondrial DNA replication; has an N-terminal
polyglutamine region. |
