RAB39B
Description
The RAB39B (RAB39B, member RAS oncogene family) is a protein-coding gene located on chromosome X.
RAB39B is a gene that encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking.
RAB39B, a small GTPase belonging to the Rab family, plays a crucial role in intracellular membrane trafficking. It regulates various stages of vesicle transport, from their formation to fusion with target membranes. RAB39B cycles between an inactive GDP-bound state and an active GTP-bound state, which allows it to interact with different effector proteins and regulate vesicle formation, movement, tethering, and fusion. RAB39B has also been implicated in autophagy, a cellular process that removes damaged or unnecessary components. Additionally, RAB39B might regulate the levels of alpha-synuclein, a protein involved in Parkinson's disease. RAB39B works with PICK1 to facilitate the movement of GRIA2, a subunit of AMPA receptors, from the endoplasmic reticulum to the Golgi apparatus. This process contributes to the regulation of AMPA receptor composition at synapses, ultimately affecting synaptic transmission.
RAB39B is also known as BGMR, MRX72, WSMN, WSN, XLID72.
Associated Diseases
- Early-onset parkinsonism-intellectual disability syndrome
- Mental retardation, X-linked 72
- Waisman syndrome
