DISEASES

Disease-gene associations mined from literature

Literature on UNC13A

UNC13A [ENSP00000429562]

Protein unc-13 homolog A; 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. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity). Also involved in secretory granule priming in insulin secretion. Plays a role in dendrite formation by melanocytes ; Belongs to the unc-13 family.

Synonyms:  UNC13A,  UNC13Ap,  hUNC13A,  F8VZH8,  F8W059 ...

Linkouts:  STRING  Pharos  UniProt  OMIM