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TBC1 domain family member 8 (TBC1D8)
- Target
- TBC1D8
- Molecular classification
- Enzyme (Rab GTPase-activating protein), Other (TBC domain-containing protein)
01
Overview
TBC1 domain family member 8 (TBC1D8) is an enzyme from the TBC (Tre-2/Bub2/Cdc16) domain-containing family, predicted to enable GTPase activator activity, mainly as a Rab GTPase-activating protein involved in the regulation of membrane trafficking processes. It plays roles in blood circulation, cell proliferation, and skeletal traits, and may be involved in the positive regulation of cell population proliferation and membrane dynamics. TBC1D8 directly interacts with viral proteins such as hepatitis C virus NS5A, mediating viral replication, and is upregulated in certain cancers (notably ovarian cancer), where it promotes aerobic glycolysis (the Warburg effect) and tumorigenesis by modulating pyruvate kinase M2 activity. Mutations or dysregulation of TBC1D8 have been implicated in diseases including osteoporosis risk (bone mineral density loci), deafness, and cancer. No approved drugs, direct pharmacological modulators, or established safety concerns are currently reported for this target.
- Other names
- GRAMD8HBLP1TBC1D8ABUB2-like protein 1Vascular Rab-GAP/TBC-containing proteinAD3VRP
02
Biological functions
GTPase activator activityblood circulationpositive regulation of cell population proliferationregulation of endocytic traffickingmetabolic reprogramming (aerobic glycolysis)transcriptional repression (fusion context)
03
Disease associations
Cancer (ovarian carcinoma and potentially other types)osteoporosis/bone mineral density regulationhepatitis C virus infection (host factor)deafness (Autosomal Dominant Nonsyndromous Deafness 78)
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