Aliases for STX1B Gene
External Ids for STX1B Gene
Previous HGNC Symbols for STX1B Gene
Previous GeneCards Identifiers for STX1B Gene
The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
GeneCards Summary for STX1B Gene
STX1B (Syntaxin 1B) is a Protein Coding gene. Diseases associated with STX1B include Generalized Epilepsy With Febrile Seizures Plus, Type 9 and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Synaptic vesicle cycle and LGI-ADAM interactions. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SNARE binding. An important paralog of this gene is STX1A.
UniProtKB/Swiss-Prot Summary for STX1B Gene
Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).