Disease-gene associations mined from literature

Literature associating UNC13B and hypomyelinating leukodystrophy

UNC13B [ENSP00000367756]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM