Human Myotubularin-related protein 13 (SBF2) ELISA Kit

Background

SBF2, also referred to as SET-binding factor 2, is a pseudophosphatase similar to SBF1 but is more directly implicated in vesicular trafficking and peripheral nervous system function. Like SBF1, SBF2 belongs to the myotubularin-related protein family and lacks phosphatase activity, serving instead as a regulator of phosphoinositide signaling pathways. It is critical for endosomal trafficking, particularly in sorting and recycling processes, by interacting with Rab GTPases and other components of the endocytic machinery. Mutations in SBF2 are causative for Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a severe demyelinating neuropathy, underscoring its importance in maintaining axonal and Schwann cell function. SBF2 interacts with SBF1, forming a complex that regulates membrane dynamics and lipid signaling, with evidence suggesting that the partnership enhances the stability and functionality of endosomal systems. SBF2 expression is enriched in the nervous system, particularly in peripheral nerves and the brain, aligning with its role in neural homeostasis. Structural analysis reveals that SBF2 contains conserved coiled-coil and PH domains that mediate interactions with lipids and proteins, further supporting its scaffolding function. SBF2 also appears to influence cytoskeletal organization and intracellular signaling cascades, including the PI3K-AKT pathway, linking it to cell growth and survival processes. Recent studies highlight a potential role for SBF2 in cancer progression, suggesting that it may regulate tumor cell migration and invasion through its effects on vesicular trafficking and signaling.