Myotubularin-related protein 13 (SBF2)

Myotubularin-related protein 13 (SBF2) is a pseudophosphatase in the myotubularin family encoded by the SBF2 gene in humans. It plays an essential role in cellular signaling, particularly in the maintenance of the myelin sheath surrounding neurons, and in the development of ocular trabecular meshwork. SBF2 acts as a guanine nucleotide exchange factor (GEF) for Rab GTPases. Unlike its active phosphatase relatives, it lacks catalytic activity but is involved in complex protein-protein interactions. Mutations or deficits in SBF2 function result in a demyelinating neuropathy known as Charcot-Marie-Tooth disease type 4B2, manifesting as abnormal myelin structure, and may cause glaucoma when protein function is completely lost. SBF2 gene variants have also been associated with increased susceptibility to taxane-induced peripheral neuropathy in cancer patients[1][2][4][5][7].

Other names

SET binding factor 2CMT4B2KIAA1766MTMR13DENND7BInactive phosphatidylinositol 3-phosphatase 13