STX19

Chr 3

syntaxin 19

NCBI Gene: 415117 ENSG00000178750 UniProt: Q8N4C7

The STX19 protein is a SNARE complex component that facilitates synaptic vesicle fusion at presynaptic active zones and participates in endosomal trafficking of growth factor receptors. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; synaptic vesicle fusion to presynaptic active zone membrane; and vesicle docking. Predicted to be located in cytoplasm and membrane. Predicted to be part of SNARE complex. Predicted to be active in endomembrane system and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.68

LOEUF

Multiple*

Mechanism· predicted