RAB8B

RAB8B is a protein that in humans is encoded by the RAB8B gene. This gene is located on chromosome 17q21.3. RAB8B is a member of the Rab family of small GTPases, which play crucial roles in various cellular processes, including vesicle trafficking, endocytosis, and exocytosis. Rab proteins cycle between an active GTP-bound state and an inactive GDP-bound state, regulating the function of their associated proteins.

RAB8B is specifically involved in the regulation of late endosomal and lysosomal trafficking. It is known to interact with several proteins, including Rab7, which is another member of the Rab family. This interaction is important for the proper functioning of the endosomal-lysosomal system, which is essential for the degradation of cellular waste and the recycling of cellular components.

Mutations in the RAB8B gene have been associated with several diseases, including Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. These syndromes are characterized by defects in lysosomal trafficking and storage, leading to various clinical manifestations such as oculocutaneous albinism, neutropenia, and platelet dysfunction.

In summary, RAB8B is a key regulator of late endosomal and lysosomal trafficking, and mutations in the RAB8B gene can lead to genetic disorders characterized by defects in these cellular processes. Further research is needed to fully understand the molecular mechanisms underlying RAB8B function and its role in disease.