Disease-gene associations mined from literature

Literature associating UNC13A and frontotemporal dementia

UNC13A [ENSP00000429562]

Unc-13 homolog A (C. elegans); 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; Belongs to the unc-13 family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM