Munc18-1 est un gène codé par le symbole STXBP1. Communément appelé aussi: 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 a une masse de 67.57kDa, une longueur d'acide aminé de 594, et est impliqué dans Epileptic encephalopathy, early infantile, 4.
Nous proposons 9 des anticorps contre Munc18-1, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris, Rat et Poisson Zèbre.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Brain and spinal cord. Highly enriched in axons.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the STXBP/unc-18/SEC1 family.
Localisation cellulaire
Cytoplasm > Cytosol. Membrane.
