Literature associating UNC13B and hypomyelinating leukodystrophy
Unc-13 homolog B (C. elegans); Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity- depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity); Belongs to the unc-13 family.
Synonyms: UNC13B, UNC13Bp, hUNC13B, B1AM27, F8W8M9 ...