STXBP1

syntaxin binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 4

From UniProt:

Epileptic encephalopathy, early infantile, 4 (EIEE4): 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. [MIM:612164]

Cytogenetic Location: 9q34.1, which is the long (q) arm of chromosome 9 at position 34.1

Molecular Location: base pairs 127,612,207 to 127,692,716 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.1, which is the long (q) arm of chromosome 9 at position 34.1
  • MUNC18-1
  • NSEC1
  • P67
  • RBSEC1
  • UNC18