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.
Other Names
hUNC18; MUNC18-1; N-Sec1; neuronal SEC1; NSEC1; RBSEC1; unc-18A; UNC18; unc18-1
Related Genetics Topics
- Lennox-Gastaut syndrome — MedlinePlus Genetics
- STXBP1 encephalopathy with epilepsy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6812
- OMIM: 602926
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
