MUNC-18a Antibody – Rabbit

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

STXBP1: may participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions. Two splice-variant isoforms have been described.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: nucleoplasm; protein complex; mitochondrion; cytoplasm; plasma membrane; cytosol

Molecular Function: identical protein binding; protein domain specific binding; SNARE binding; syntaxin binding; syntaxin-1 binding; protein N-terminus binding; protein kinase binding

Biological Process: protein stabilization; synaptic vesicle maturation; neurotransmitter secretion; regulation of synaptic vesicle fusion to presynaptic membrane; positive regulation of calcium ion-dependent exocytosis; synaptic transmission; protein transport; platelet degranulation; axon target recognition; glutamate secretion; energy reserve metabolic process; neuromuscular synaptic transmission; negative regulation of neuron apoptosis; negative regulation of synaptic transmission, GABAergic; regulation of insulin secretion; vesicle docking during exocytosis

Disease: Epileptic Encephalopathy, Early Infantile, 4