Unc-13 homolog A (UNC13A)

UNC13A is essential for vesicle maturation during exocytosis, acting as a target of the diacylglycerol second messenger pathway. Its primary roles include priming synaptic vesicles prior to their fusion with the presynaptic membrane, participating in activity-dependent refilling of the readily releasable vesicle pool (RRP), and facilitating neurotransmitter release at most excitatory/glutamatergic synapses and some GABAergic synapses. It also contributes to secretory granule priming in insulin secretion and plays roles outside neurons, such as dendrite formation by melanocytes. Single nucleotide polymorphisms (SNPs) within UNC13A are associated with increased risk for neurodegenerative diseases such as Amyotrophic lateral sclerosis (ALS) and Frontotemporal dementia (FTD). There is also evidence linking variants of this gene to Alzheimer's disease risk.