STXBP5L
Description
The STXBP5L (syntaxin binding protein 5L) is a protein-coding gene located on chromosome 3.
STXBP5L, also known as Tomosyn-2, plays a crucial role in regulating vesicle trafficking and inhibiting exocytosis. Specifically, in pancreatic beta-cells, it suppresses insulin secretion by interacting with and controlling STX1A and STX4, essential t-SNARE proteins involved in fusing insulin granules with the plasma membrane. Additionally, STXBP5L contributes to neurotransmitter release by suppressing basal acetylcholine release from axon terminals and preventing synaptic fatigue during repetitive stimulation. Interestingly, it also promotes axonal outgrowth.
STXBP5L is also known as LLGL4.
Associated Diseases
- schizophrenia 15
- Glanzmann thrombasthenia 1
- Phelan-McDermid syndrome
- type 2 diabetes mellitus
- Alzheimer disease
- cancer
