Literature associating RAB5A and Charcot-Marie-Tooth disease type 2B
RAB5A, member RAS oncogene family; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan. Regulates maturation of apoptotic cell- containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).
Synonyms: RAB5A, RAB5Ap, hRAB5A, A0A024R2K1, B4DJA5 ...