STXBP1 Antibody – Goat Polyclonal

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]

Function: 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.

Subunit structure: Binds SYTL4

By similarity. Interacts with STX1A. Ref.6

Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein.

Tissue specificity: Brain and spinal cord. Highly enriched in axons.

Involvement in disease: Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities: Belongs to the STXBP/unc-18/SEC1 family.