TBC1 domain family member 8B (TBC1D8B)

TBC1 domain family member 8B (TBC1D8B) is a protein coding gene that encodes a Rab-GTPase-activating protein, featuring a TBC (Tre-2/Bub2/CDC16) domain and GRAM domains which bind to lipid rafts[1][2][3][6][7]. TBC1D8B is primarily involved in the regulation of endocytosis and vesicular recycling, especially in podocytes of the kidney, where it interacts with Rab11b, regulating the internalization and recycling of proteins critical for glomerular filtration barrier integrity[2][3][4][6]. Mutations in TBC1D8B are associated with X-linked steroid-resistant nephrotic syndrome and hereditary kidney diseases, likely due to altered vesicle trafficking, impaired migration, and defective signaling in podocyte cells[2][6]. While not a classical receptor, enzyme, or transporter, TBC1D8B is considered a disease gene/protein; it has not been directly targeted by drugs, nor are there known drugs modulating its action or validated biomarkers for clinical use[1][3][6][13].

Other names

FLJ20298RP11-321G1.1GRAMD8BNPHS20TBC1 domain family, member 8B (with GRAM domain)