ab94272 is a 293T cell transfected lysate in which Human Munc18 has been transiently over-expressed using a pCMV-Munc18 plasmid. The lysate is provided in 1X Sample Buffer. Note: For more detailed how the transfected lysate was prepared view preparation notes
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.
Tissue specificity: Brain and spinal cord. Highly enriched in axons.
Disease: Defects in STXBP1 are the cause of epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]. Affected individuals have neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination.
Similarity: Belongs to the STXBP/unc-18/SEC1 family.