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    BIOMARKER:

    DEPDC5 deletion

    i
    Other names: DEPDC5, DEP Domain Containing 5, GATOR1 Subcomplex Subunit, DEP Domain-Containing Protein 5, GATOR Complex Protein DEPDC5, DEP Domain Containing 5, FFEVF1, FFEVF
    Entrez ID:
    9681
    Related biomarkers:
    Mutation
    6ms
    Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. (PubMed, Mol Syndromol)
    Interestingly, our patient developed cleft palate even without deletion of the MN1 gene, deemed responsible in previous studies. We also strongly suspect the DEPDC5 gene deletion to be responsible for seizures, consistent with previously reported cases.
    Journal
    |
    DEPDC5 (DEP Domain Containing 5, GATOR1 Subcomplex Subunit) • MN1 (MN1 Proto-Oncogene Transcriptional Regulator)
    |
    DEPDC5 deletion
    over2years
    Persistent mTORC1 activation via Depdc5 deletion results in spontaneous hepatocellular carcinoma but does not exacerbate carcinogen- and high-fat diet-induced hepatic carcinogenesis in mice. (PubMed, Biochem Biophys Res Commun)
    This study provides the novel in vivo evidence for Depdc5 deletion mediated mTORC1 hyperactivation in liver tumorigenesis caused by aging or DEN&HFD treatment. Moreover, our findings also propose that pharmacological inhibition of mTORC1 signaling maybe a promising strategy to treat HCC patients with mutations in DEPDC5 gene.
    Preclinical • Journal
    |
    DEPDC5 (DEP Domain Containing 5, GATOR1 Subcomplex Subunit)
    |
    DEPDC5 deletion • DEPDC5 mutation