Munc18-1 è un gene codificato dal simbolo STXBP1. Comunemente indicato anche come: 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 ha una massa di 67.57kDa, una lunghezza di amminoacidi di 594, ed è implicato in Epileptic encephalopathy, early infantile, 4.
Offriamo 9 anticorpi contro Munc18-1, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo, Ratto e Zebrafish.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Brain and spinal cord. Highly enriched in axons.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the STXBP/unc-18/SEC1 family.
Posizione cellulare
Cytoplasm > Cytosol. Membrane.
