UNC13A

UNC13A, unc-13 homolog A, alias Munc13-1, belongs to the UNC13 family. It is distributed in synaptic vesicles and is able to bind zinc ions, diacylglycerol and metal ions.
The mechanism of action of UNC13A involves binding to fobol esters and diglycerides, which play an important role in synaptic neurotransmitter release. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis (ALS).
UNC13A is expressed in neuronal tissues and is involved in the maintenance of synaptically active regions, acting by enabling the initiation and docking of synaptic vesicles. In the absence of functional TDP-43, risk variants in UNC13A result in the inclusion of a cryptic exon in the UNC13A messenger RNA, which subsequently leads to nonsense-mediated decay, resulting in the loss of functional protein. Depletion of UNC13A leads to impaired neurotransmission. UNC13A not only has an important role in neurobiology, but has also been recognized as a potential therapeutic target in the development of treatments for ALS.