SNX18
Description
The SNX18 (sorting nexin 18) is a protein-coding gene located on chromosome 5.
SNX18 is a protein encoded by the SNX18 gene in humans. It belongs to the sorting nexin family, characterized by a phox (PX) domain, which binds phosphoinositides, and plays a role in intracellular trafficking. Unlike some family members, SNX18 lacks a coiled coil region but contains a SH3 domain. The specific function of SNX18 is not fully understood.
SNX18 plays a crucial role in endocytosis and intracellular vesicle trafficking, both during normal cell function (interphase) and at the end of cell division (mitosis). It is essential for efficient cell division (mitosis and cytokinesis) and proper formation of the cleavage furrow during cell division. SNX18 contributes to endocytosis through both clathrin-coated pits and clathrin-independent, actin-dependent fluid-phase endocytosis. It also participates in macropinocytosis. SNX18 binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. It stimulates the GTPase activity of DNM2 and promotes its location at the plasma membrane. Working with DNM2, SNX18 is involved in autophagosome assembly by regulating the trafficking of phospholipid scramblase ATG9A from recycling endosomes.
SNX18 is also known as SH3PX2, SH3PXD3B, SNAG1.
Associated Diseases
- schizophrenia 15
- Phelan-McDermid syndrome
- Potocki-Lupski syndrome
- Smith-Magenis syndrome
- intellectual developmental disorder, X-linked, syndromic, Pilorge type
- FRAXE intellectual disability
- Duchenne muscular dystrophy
