RAB4A Human

RAB4A is a gene that encodes a protein belonging to the Ras superfamily of small GTPases. These proteins are pivotal in regulating membrane trafficking, which is essential for various cellular processes. The RAB4A protein is particularly associated with early endosomes and plays a crucial role in their sorting and recycling .

• Gene Name: RAB4A (RAB4A, Member RAS Oncogene Family)
• Aliases: HRES-1/RAB4, RAB4
• Protein Class: Enzymes
• Protein Evidence: Evidence at protein level

The RAB4A protein cycles between an active GTP-bound state and an inactive GDP-bound state. This cycling is essential for its role in protein transport and vesicular traffic. Specifically, RAB4A mediates the endosomal trafficking of VEGFR2, enhancing VEGFR2 signaling. It also acts as a regulator of platelet alpha-granule release during platelet activation and aggregation .

RAB4A exhibits low tissue specificity, meaning it is expressed in various tissues, including the cerebral cortex, cerebellum, basal ganglia, hypothalamus, midbrain, amygdala, and more. The protein is predominantly intracellular .

Mutations or dysregulation of the RAB4A gene have been associated with intellectual developmental disorders, specifically autosomal recessive 44 and autosomal recessive 5. These associations highlight the importance of RAB4A in normal cognitive development and function .

RAB4A is involved in several critical pathways, including vesicle-mediated transport and the metabolism of proteins. These pathways are essential for maintaining cellular homeostasis and ensuring the proper functioning of various cellular processes .