Disease-gene associations mined from literature

Literature associating STXBP1 and early myoclonic encephalopathy

STXBP1 [ENSP00000362399]

Syntaxin binding protein 1; May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.

Synonyms:  STXBP1,  STXBP1p,  hSTXBP1,  P61764,  Q59GC9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM