Function
Calcium sensor that participates in triggering neurotransmitter release at the synapse. May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone.
Biological Context
Subcellular Location: Cytoplasmic vesicle, secretory vesicle membrane (Single-pass membrane protein); Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (Single-pass membrane protein); Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane (Single-pass membrane protein); Cytoplasm
Tissue Specificity: Expressed in melanocytes
Disease Association: Baker-Gordon syndrome (BAGOS) : An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Synaptotagmin-1 (SYT1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 99-416aa, with N-terminal 6xHis-tagged tag, molecular weight 40.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
