Description
Product Characteristics:
Munc18 may participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP binding proteins. It is essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Munc18 can interact with syntaxins 1, 2, and 3 but not syntaxin 4. It may play a role in determining the specificity of intracellular fusion reactions. Mutations in Munc18 can result in accumulations of acetylcholine and paralytic phenotype suggestive of a neurotransmitter release defect. Two Munc18 isoforms have recently been identified. Munc18-1 has been shown to be primarily expressed in brain, while Munc18-2 is expressed in most tissues.
Subcellular location: Cytoplasm
Synonyms: Stxbp1phospho S515, FLJ37475, hUNC 18, hUNC18, Munc 18 1, Munc 18, Munc 18a, Munc18 1, Munc18a, N Sec1, N-Sec1, Neuronal SEC1, NSec1, p67, Protein unc-18 homolog 1, Protein unc-18 homolog A, Rb sec1, RBSEC1, STX BP1, STXB1_HUMAN, STXBP 1, STXBP1, Syntaxin binding protein 1, Syntaxin-binding protein 1, Unc 18 1, UNC 18, Unc 18 homolog, Unc 18A, Unc-18A, Unc18 1, UNC18, Unc18 homolog, Unc18-1, Unc18A.
Target Information: 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]