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Involved in DNA damage response.
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Report rare ATAD5 missense mutations may contribute to genetic susceptibility breast cancer and epithelial ovarian carcinoma.
Authors discuss many functions of Elg1 protein as embryonic lethal when lost in mice, as a tumor suppressor in mice and humans, interacts with human Fanconi Anemia (zeige PALB2 Antikörper) pathway and may contribute to some of the phenotypes associated with neurofibromatosis. [Review]
Elg1 has an important role in maintaining chromosome integrity by regulating PCNA (zeige PCNA Antikörper) levels on chromatin, thereby acting as a PCNA (zeige PCNA Antikörper) unloading factor.
ATAD5 regulates the cycle of DNA replication factories, probably through its PCNA (zeige PCNA Antikörper)-unloading activity.
loss-of-function mutations in mammalian Atad5 are sufficient to cause genomic instability and tumorigenesis.
Studies indicate that USP1 (zeige USP1 Antikörper) and ELG1 as regulators of PCNA (zeige PCNA Antikörper) ubiquitylation.
Human ELG1 protein is stabilized and localized to form foci at sites of stalled DNA replications that are different from DNA double strand breaks foci.
The Frag1 signal pathway, by linking replication stress surveillance with apoptosis induction, plays a central role in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis.
Atad5+/m cells accumulate in the S phase, have decreased proliferation, and have reduced double-strand breaks, class switch recombination, and translocations
Involved in DNA damage response. Involved in a RAD9A- related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages- induced apoptosis.
ATPase family, AAA domain containing 5
, chromosome fragility associated gene 1
, ATPase family AAA domain-containing protein 5-like
, ATPase family AAA domain-containing protein 5
, chromosome fragility-associated gene 1 protein
, enhanced level of genomic instability 1 homolog
, enhanced level of genomic instability gene 1