STXBP1

Syntaxin-binding protein 1 (STXBP1, alias Munc18-1) is a key regulator of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex. It binds syntaxin-1 to stabilize the SNARE assembly, enabling synaptic vesicle fusion and neurotransmitter release—critical for neuronal communication and circuit homeostasis.
Pathogenic STXBP1 variants cause STXBP1 encephalopathy, a neurodevelopmental disorder marked by early-onset epilepsy, intellectual disability, and motor impairments. Drug development includes preclinical studies of antisense oligonucleotides (ASOs) to correct splicing defects and small molecules targeting SNARE complex modulation, aiming to restore synaptic function.