SNAP25 突触小体关联蛋白25;synaptosome associated protein 25 STX1A 突触融合蛋白1A;syntaxin 1A VAMP2 囊泡关联膜蛋白2;vesicle associated membrane protein 2
简介
This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] Diseases associated with CADPS2 include Autism Spectrum Disorder and Hypogonadotropic Hypogonadism 22 With Or Without Anosmia. Gene Ontology (GO) annotations related to this gene include lipid binding. Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000305} Synapse Note: Membrane-associated to vesicles. Strongly enriched in synaptic fractions. Probably localizes to different vesicles compared to CADPS. Enriched on vesicular structures in the parallel fiber terminal of granule cells that are distinct from synaptic vesicles. Quaternary structure: Homodimer (By similarity). Interacts with the dopamine receptor DRD2.