RAB18 : RAB18, member RAS oncogene family


Description

The RAB18 (RAB18, member RAS oncogene family) is a protein-coding gene located on chromosome 10.

The RAB18 gene provides instructions for producing the RAB18 protein, which functions as a GTPase. GTPases act as molecular switches, being turned on (active) when bound to GTP and turned off (inactive) when bound to GDP. Active RAB18 is involved in vesicle trafficking, moving proteins and molecules within cells. It regulates substance movement between cellular compartments and the storage and release of fats (lipids) by lipid droplets. RAB18 also plays a role in autophagy, clearing unneeded cellular material. It is important for the organization of the endoplasmic reticulum, involved in protein processing and transport.

RAB18 is a small GTPase that regulates intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. It cycles between an inactive GDP-bound form and an active GTP-bound form, which recruits downstream effectors involved in vesicle formation, movement, tethering, and fusion. RAB18 is required for the localization of ZFYVE1 to lipid droplets and for its function in mediating the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts. It is also required for maintaining endoplasmic reticulum structure and plays a role in apical endocytosis/recycling. RAB18 plays a key role in eye and brain development and neurodegeneration.

RAB18 is also known as RAB18LI1, WARBM3.

Associated Diseases


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