STXBP1 : syntaxin binding protein 1

Description

The STXBP1 (syntaxin binding protein 1) is a protein-coding gene located on chromosome 9.

The STXBP1 gene provides instructions for making syntaxin-binding protein 1. In nerve cells (neurons), this protein helps regulate the release of chemical messengers called neurotransmitters from compartments known as synaptic vesicles. The release of neurotransmitters relays signals between neurons and is critical for normal brain function. To release its neurotransmitters, a synaptic vesicle must join (fuse) with the outer membrane of the neuron. The syntaxin-binding protein 1 regulates the formation of a group (complex) of proteins that allows vesicle fusion. Syntaxin-binding protein 1 may also have a role in the positioning and growth of neurons during brain development. Proper localization of neurons is important for normal brain formation and function.

STXBP1 participates in the regulation of synaptic vesicle docking and fusion by interacting with GTP-binding proteins. It is essential for neurotransmission and binds to syntaxin, a key component of the synaptic vesicle fusion machinery, likely in a 1:1 ratio. STXBP1 can interact with syntaxins 1, 2, and 3, but not with syntaxin 4. It is involved in neurotransmitter release from neurons by interacting with STX1A, a SNARE complex component, and facilitating the assembly of the SNARE complex at synaptic membranes. STXBP1 may play a role in determining the specificity of intracellular fusion reactions.

STXBP1 is also known as DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing