Munc18-1 ist ein Gen, das durch das Symbol STXBP1 kodiert wird. Im Allgemeinen auch bezeichnet als: Syntaxin-binding protein 1; N-Sec1; Protein unc-18 homolog 1; Unc18-1; Protein unc-18 homolog A; Unc-18A; p67; STXBP1; UNC18A. Munc18-1 hat eine Masse von 67.57kDa, eine Aminosäurelänge von 594, und ist an Epileptic encephalopathy, early infantile, 4 beteiligt.
Wir bieten 9 antikörper gegen Munc18-1, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte und Zebrafisch.
Gen- und Proteininformationen
UniProt Zusammenfassung
Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). 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.
Entrez Zusammenfassung
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.
Gewebespezifität
Brain and spinal cord. Highly enriched in axons.
Rolle bei Krankheiten
Epileptic encephalopathy, early infantile, 4: 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.
Sequenzähnlichkeiten
Belongs to the STXBP/unc-18/SEC1 family.
Zellort
Cytoplasm > Cytosol. Membrane.
