RAB6B Human

RAB6B is a member of the RAS oncogene family, which encodes a protein involved in intracellular membrane trafficking. This protein is part of the small GTPase superfamily, specifically the RAB family, which plays a crucial role in the regulation of vesicle transport within cells.

The RAB6B gene is located on chromosome 3 and encodes a protein consisting of 208 amino acids with a molecular mass of approximately 25.6 kDa . The protein is characterized by its ability to bind GTP and GDP, cycling between an active GTP-bound state and an inactive GDP-bound state. This cycling is essential for its role in vesicle transport.

RAB6B is primarily involved in the regulation of Golgi vesicle transport and retrograde transport from endosomes to the Golgi apparatus . It recruits various effector proteins to the Golgi membrane, facilitating the transport of vesicular carriers from donor organelles to acceptor organelles. This process is vital for maintaining the identity and morphology of organelles within the cell .

In neuronal cells, RAB6B is believed to play a role in retrograde transport, which is crucial for the development of neuron projections . The protein’s ability to bind myosin V further supports its role in intracellular transport mechanisms .

RAB6B is expressed in various tissues, including the brain, where it is involved in neuron projection development . It is also found in other tissues such as the lymphoid tissue, bone marrow, testis, and skeletal muscle . The protein is localized primarily in the Golgi apparatus, where it exerts its function in vesicle transport .

Mutations or dysregulation of the RAB6B gene have been associated with certain diseases, including Cohen Syndrome and Intellectual Developmental Disorder, Autosomal Recessive 16 . These associations highlight the importance of RAB6B in normal cellular function and development.