Aliases for UNC13A Gene
External Ids for UNC13A Gene
Previous GeneCards Identifiers for UNC13A Gene
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
GeneCards Summary for UNC13A Gene
UNC13A (Unc-13 Homolog A) is a Protein Coding gene. Diseases associated with UNC13A include Amyotrophic Lateral Sclerosis 1 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1. Among its related pathways are Synaptic vesicle cycle. GO annotations related to this gene include protein N-terminus binding and diacylglycerol binding. An important paralog of this gene is UNC13B.
UniProtKB/Swiss-Prot for UNC13A Gene
Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).